Batten Disease and the Batten Disease Family Association Together - - PowerPoint PPT Presentation

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

• f 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?