Batten Disease

What is Batten Disease?
Batten Disease is an inherited disorder that primarily affects the nervous system. More information about Batten Disease may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/10739/batten-disease

What is the prevalence of Batten Disease?
Batten Disease affects an estimated 2 to 4 out of every 100,000 children in the United States.

How is Batten Disease diagnosed?
A differential diagnosis should be conducted to determine other possible causes of symptoms. A genetic test can help confirm Batten Disease in patients.

Is there any specific gene/pathway in Batten Disease that has been identified?
Batten Disease is caused by mutations in the CLN3 gene.

How is Batten Disease treated?
Treatment of Batten Disease is specific to the symptoms of each patient. Recently, the use of a custom drug called Milasen was widely publicized: https://cen.acs.org/business/Milasen-drug-idea-injection-10/97/i42). More information on treatment may be found here: https://rarediseases.org/rare-diseases/alstrom-syndrome/

Are there any clinical trials underway for Batten Disease?
The National Institutes of Health (NIH) has completed 13 clinical trials for Alstrom Syndrome. Currently, there are 27 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=batten&term=&cntry=&state=&city=&dist=

How can RareShare be helpful to Batten Disease patients and families?
The Batten Disease community has 2 members. There is currently 1 active discussion underway. New discussions can help to connect patients, health workers, caregivers and families interested in Batten Disease and provide them continual access to community resources.