Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs...

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Batten Disease and the Batten Disease Family Association Together we will make a difference

Transcript of Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs...

Page 1: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Batten Disease and the

Batten Disease Family

Association Together we will make a difference

Page 2: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Neuronal Ceroid Lipofuscinoses NCLs

Autosomal recessive inheritance

Classified according to the gene identified

Over 400 mutations have been found in 14 different genes.

There are 14 types of Batten disease which have currently been discovered.

Each child will present very similar symptoms but at very differing speeds

Mutations in the genes cause deficiencies resulting in abnormal storage of

proteins and lipids in neurons and other cells leading to symptoms.

There is currently NO cure and NO treatments for this disease. Although there

are clinical trials and lots of research is happening.

Page 3: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

NCL Classification

CLN1 – Infantile

CLN2 – Late Infantile

CLN3 – Juvenile

CLN5 – Variant Late Infantile

CLN6 – Variant Late Infantile

CLN7 – Turkish Variant Late

Infantile

CLN8 – Variant Late Infantile

CLN10 – Congential

CLN14 – ?

Page 4: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Symptoms – CLN1 disease

Children are healthy from birth.

From 6 months – 1 year symptoms appear

Development begins to slow down

They often have more difficulty sleeping and my be irritable.

Some infants develop repetitive hand movements

They lose their developmental skills such as walking, crawling and talking.

Children develop hard to control seizures around 2 years old.

Vision deteriorates until the children can no longer see.

They lose control of all muscles and cannot swallow.

Death occurs around 5 years old

Page 5: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Symptoms CLN2,5,6,7,8 diseases

Children are healthy at birth.

At around 2-3 years old they start to experience seizures.

Their vision will also start to deteriorate until they can no longer see.

They will then lose the ability to walk and then talk

They lose the ability to swallow.

They lose their short term memory but their long term memory stays in tact

They lose control of their muscles

The seizures are very hard to control

Death occurs between 6 & 12 years old. Many children die at 6 years old.

Page 6: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Symptoms of CLN3 disease

Children are healthy when they are born.

Between the ages of 5-6 they will begin to lose their sight.

Between the ages of 10-11 they will begin to experience seizures.

Children experience hallucinations

They lose their short term memory

They lose the ability to walk in their mid teens

They lose the ability to talk around the same time.

They often experience behaviour issues and anxiety issues because of the disorganisation in the brain.

Death occurs between 15-30 years old. This progression is usually slower than the other NCL’s

Page 7: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Estimated 150-200 UK Batten children and Young Adults

We currently know of:

6 CLN1

30 CLN2

36 CLN3

10 variant/others

Page 8: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

The BDFA was founded in 1998 by a group of parents with

affected children and with the help of Contact a Family and

Seeability. The aim then, as now, was to ensure that no family

face the devastating diagnosis of Batten disease alone.

Page 9: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Mission

To ensure that everyone living with a diagnosis of Batten disease has access to the best quality services and support to enable them to live life to the full and to change lives by funding research into potential therapies and ultimately a cure.

Page 10: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

The BDFA has three main aims

To support families and

the professionals who

work with them

To raise awareness

and advocate for better

services and

treatments

To directly fund

research into potential

therapies and

ultimately a cure

Page 11: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

What we do

Page 12: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Family Support and advocacy

Support and signposting

Leaflets and Information

Educational support and training

EHCs

Batten CNS

Research and trials information

Support on trials

Grant and wish applications

Connect families

Connect professionals

Training workshops

Write letters and advocacy

Equipment and Benefits

Small grants scheme

Family conference

Page 13: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

NCL Awareness

Social media

Website

Newsletters and Batten Bulletin

Alliances and affiliations

Parliamentary advocacy and

lobbying

Batten disease awareness day

Press coverage

Resources, leaflets

Supporter fundraising

Page 14: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

NCL Research The BDFA funds research into all forms

of the NCLs and includes

Support and Advocacy for families on

BMN190 clinical trial in the UK and

worldwide

Dem-Child International registry

NCL Mutation Database

Research into underlying disease

mechanisms

Research into potential therapies and

ultimately a cure

Page 15: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Research Funding

• Gene Therapy to treat the visual failure in

Batten disease.

• CLN1 pre clinical research with Professor

Sandy Hoffman in Texas

• CLN2 drug discover work in zebra fish model

with Dr Claire Russell at RVC

• Sparks Medical Research Charity

collaboration

• Professor Jon Cooper, cell-based model of

CLN3 disease

Page 16: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Future plans for the BDFA

1. Further research funding in both basic mechanisms and translational research towards clinical trials

2. Development with NHS England of specialized Batten service and introduction of new therapies

3. Expansion of support and advocacy service

4. Expansion of education advocacy service

5. Scoping and recruitment of Adult Batten Clinical Nurse Specialist

6. Create new funding initiatives to ensure continuation of our growth

Page 17: Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs Autosomal recessive inheritance Classified according to the gene identified Over 400

Thank you and

questions?