Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs...
Transcript of Batten Disease and the Batten Disease Family Association · Neuronal Ceroid Lipofuscinoses NCLs...
Batten Disease and the
Batten Disease Family
Association Together we will make a difference
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.
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 – ?
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
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.
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
Estimated 150-200 UK Batten children and Young Adults
We currently know of:
6 CLN1
30 CLN2
36 CLN3
10 variant/others
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.
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.
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
What we do
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
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
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
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
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
Thank you and
questions?