AHMET VARIS

TYPES OF NIEMANN-PICK DISEASES

TYPE A TYPE B TYPE C

Most severe form

occurs in early

infancy It is

characterized by an

enlarged liver and

spleen swollen

lymph nodes and

profound brain

damage by six

months of age

Involves an

enlarged liver and

spleen which

usually occurs in

the pre-teen years

The brain is not

affected

May appear early in life or develop in the teen or adult years individuals have only moderate enlargement of the spleen and liver andbrain damage

TREATMENampPROGNOSIS

httpwwwnnpdforg

TYPE A

(httpniemannpickblogspotcom201202road-to-nowhtml)

At this time there is no effective treatment to prevent the serious signs and symptoms of Niemann-Pick disease type A (NPD-A)

But supportive treatment from various specialists can help manage the diseasersquos symptoms depending on the symptoms

present

bull Pulmonologist for rspiratory problemsbull Cardiologist for heart problemsbull Nutritionist for control feedingbull Physical therapist

Stem cell transplantation has been used in some cases but is still experimental

Prognosis for type A

Life expectancy is typically two to three years for an individual with Neimann-Pick disease type A Unfortunately babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three

(httpcaringbridgeclassicorgnyanna)

June 24th 2004 November 3rd 2007

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

TYPES OF NIEMANN-PICK DISEASES

TYPE A TYPE B TYPE C

Most severe form

occurs in early

infancy It is

characterized by an

enlarged liver and

spleen swollen

lymph nodes and

profound brain

damage by six

months of age

Involves an

enlarged liver and

spleen which

usually occurs in

the pre-teen years

The brain is not

affected

May appear early in life or develop in the teen or adult years individuals have only moderate enlargement of the spleen and liver andbrain damage

TREATMENampPROGNOSIS

httpwwwnnpdforg

TYPE A

(httpniemannpickblogspotcom201202road-to-nowhtml)

At this time there is no effective treatment to prevent the serious signs and symptoms of Niemann-Pick disease type A (NPD-A)

But supportive treatment from various specialists can help manage the diseasersquos symptoms depending on the symptoms

present

bull Pulmonologist for rspiratory problemsbull Cardiologist for heart problemsbull Nutritionist for control feedingbull Physical therapist

Stem cell transplantation has been used in some cases but is still experimental

Prognosis for type A

Life expectancy is typically two to three years for an individual with Neimann-Pick disease type A Unfortunately babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three

(httpcaringbridgeclassicorgnyanna)

June 24th 2004 November 3rd 2007

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

TREATMENampPROGNOSIS

httpwwwnnpdforg

TYPE A

(httpniemannpickblogspotcom201202road-to-nowhtml)

At this time there is no effective treatment to prevent the serious signs and symptoms of Niemann-Pick disease type A (NPD-A)

But supportive treatment from various specialists can help manage the diseasersquos symptoms depending on the symptoms

present

bull Pulmonologist for rspiratory problemsbull Cardiologist for heart problemsbull Nutritionist for control feedingbull Physical therapist

Stem cell transplantation has been used in some cases but is still experimental

Prognosis for type A

Life expectancy is typically two to three years for an individual with Neimann-Pick disease type A Unfortunately babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three

(httpcaringbridgeclassicorgnyanna)

June 24th 2004 November 3rd 2007

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

TYPE A

(httpniemannpickblogspotcom201202road-to-nowhtml)

At this time there is no effective treatment to prevent the serious signs and symptoms of Niemann-Pick disease type A (NPD-A)

But supportive treatment from various specialists can help manage the diseasersquos symptoms depending on the symptoms

present

bull Pulmonologist for rspiratory problemsbull Cardiologist for heart problemsbull Nutritionist for control feedingbull Physical therapist

Stem cell transplantation has been used in some cases but is still experimental

Prognosis for type A

Life expectancy is typically two to three years for an individual with Neimann-Pick disease type A Unfortunately babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three

(httpcaringbridgeclassicorgnyanna)

June 24th 2004 November 3rd 2007

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

But supportive treatment from various specialists can help manage the diseasersquos symptoms depending on the symptoms

present

bull Pulmonologist for rspiratory problemsbull Cardiologist for heart problemsbull Nutritionist for control feedingbull Physical therapist

Stem cell transplantation has been used in some cases but is still experimental

Prognosis for type A

Life expectancy is typically two to three years for an individual with Neimann-Pick disease type A Unfortunately babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three

(httpcaringbridgeclassicorgnyanna)

June 24th 2004 November 3rd 2007

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

Prognosis for type A

Life expectancy is typically two to three years for an individual with Neimann-Pick disease type A Unfortunately babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three

(httpcaringbridgeclassicorgnyanna)

June 24th 2004 November 3rd 2007

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

TYPE B

(httpwwwnnpdforgnpresearch_11html)

Research into therapies for NPB has progressed rapidly since the early 1990s Mount Sinai School of Medicine is conducting research on bone marrow transplantation enzyme replacement therapy and gene therapy These therapies have proven effective against NPB in the laboratory

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

bull Bone marrow transplantation this tecnique is effective in mouse

models for many aspects of type B but in early life Becouse It has only been conducted a few times on humans with Type B

bull Enzyme replacement therapy this therapy has been tested on mice and shown to be effective for niemann-pick type b

bull Gene therapy gene therapy would allow the defective gene to be replaced by normal genes Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning

bull Blood Transfusions A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

Prognosis for type B

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan In fact individuals with this form of the condition usually live into adulthood though they may have many health complications

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

TYPE C

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

Miglustat (Zavescareg Brazavesreg) a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients

But miglustat is not approved by FDA(food and drug adminstration) It is approved in European Union South Korea Brazil Russia and Australia

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

Prognosis for type C

It usually starts to affect children of school age (4-7 years old) by interfering with their ability to metabolize cholesterol Adult onset may also

httpwwwhelpkevinorgkevin-s-photo-albumhtml

Dec241993Nov 12 2008

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

(httpwwwojrdcomcontent5116figureF1)

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

(httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml)

From left to right a healthy control cell an NPC cell an NPC cell treated with delta-tocopherol and an NPC cell treated with alpha-tocopherol The image shows that treatment of NPC cells with delta-tocopherol alleviates the disease characteristics in the NPC cell (2013)

WHAT RESEARCHES ARE DONE

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

httpwwwncbinlmnihgovpmcarticlesPMC3950578binsrep04356-f1jpg

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

(httpwwwncbinlmnihgovpmcarticlesPMC3950578s1)

video

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

ARE YOU CARRIER

(httpenwikipediaorgwikiHuman_genetics)

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

1) What is the life expactancy for niemann-pick type ALife expectancy is typically two to three years for anindividual with

Neimann-Pick disease

2) Which tchniques are used for niemann-pick type BMostly bone marrow transplantation enzyme replacement therapy and gene

therapy

3) Is there any treatment for niemann-pick type CMiglustat is used for NPC but it is not approved by FDA(foood and drug

administration) Above there is atable for succes of using miglustat for NPC patient

httpwwwraredrcomarticlescan-miglustat-allow-patients-niemann-pick-type-c-live-longer

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES

httpghrnlmnihgovconditionniemann-pick-disease

httpwwwbabysfirsttestorgnewborn-screeningconditionsniemann-pick-disease

httpwwwnnpdforg

httpswwwjewishgeneticsorg

httpwwwnindsnihgovdisordersniemannniemannhtm

httpniemannpickblogspotcom201202road-to-nowhtml

httpwwwnlmnihgovmedlineplusencyarticle001207htm

Early miglustat therapy in infantile Niemann-Pick disease type C Di Rocco M1 Dardis A Madeo A Barone R Fiumara A 2012 Jul

Miglustat a review of its use in Niemann-Pick disease type C Lyseng-Williamson KA 2014 Jan

NCATS Research Team Identifies Possible Treatment forNiemann-Pick Type C1 httpwwwncatsnihgovnews-and-eventsfeaturesvitaminehtml 2013 february

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease Atsushi Tamura and Nobuhiko Yuia Mar 12 2014

A Case with Niemann-Pick Disease and Concomitant Kartagenerrsquos Syndrome Muzaffer Keklik Serdar ŞıvgınSuumlleyman BaldaneAfra YıldırımOlgun Kontaş Fatih Kardaş Ccediliğdem Pala Mustafa Ccediletin Ali Uumlnal 2013

REFERENCES