DESCRIPTION
In Batten disease, a mutation in the one of the CLN genes means the body’s cells are unable to properly eliminate waste. This waste builds up in a part of the cell called the lysosome. The buildup can be seen under a microscope in certain skin cells and blood cells, and in cells from other organs.
The genetic changes and the waste buildup cause the body’s cells to function poorly. Some cells die. The cells of the brain, eyes, and heart are especially sensitive to this. The main symptoms of Batten disease come from cells in the brain, eyes, and heart that are not functioning well.
The severity of Batten disease can vary:
- More severe. In most forms, symptoms begin in childhood, worsen over time, and lead to death.
- Less severe. Milder forms of Batten disease are less common. These forms may have one or two main symptoms, such as blindness or impaired coordination. They are not fatal.
There is a treatment available for CLN2 disease that slows down the process of symptoms getting worse. Research is ongoing for almost all forms. However, at this time, there is not a disease-specific treatment for other forms. Still, there are medications and therapies that can help to treat symptoms and improve a patient’s quality of life.
CAUSES
Batten disease is caused by a genetic change. There are at least 13 different genes associated with Batten disease. Each form is labeled by the name of the affected gene. For instance, if a child’s CLN1 gene is affected, the child will have the CLN1 form of Batten disease, or CLN1 disease.
Batten disease is typically inherited in an autosomal recessive manner. This means that two copies of a mutated gene are needed to cause the disease. In most cases, one copy is inherited from each parent. Parents, who have only one copy of the mutated gene each, are unaffected. All of the forms of Batten disease except for CLN4 disease are passed down in this way.
CLN4 is inherited in an autosomal dominant manner, so only one copy of the mutated CLN4 gene is necessary to cause disease.
OUTLOOK
At this time, there are no cures for Batten disease. Occasionally, symptoms can be moderate in severity. However, they typically are serious, worsen with time, and cause early death. Treating the symptoms of Batten disease can be helpful in improving quality of life and preventing complications.
Resources
AllStripes
The mission of AllStripes is to unlock new treatments for people affected by rare disease. Serving as a research platform dedicated to rare diseases, AllStripes makes it easy for patients to contribute to new treatment research from home. There is no cost for patients, families, or advocacy organizations to participate, join research programs, or use the platform. AllStripes does the work to collect and analyze de-identified medical records to help power faster, better drug development. By bringing patients, doctors, and researchers together everyone learns from each other’s experiences to effectively push for better treatments across all rare conditions. They have over 40 active rare disease programs, which includes Batten disease, and they are adding more every month.
AllStripes partners with rare disease patient advocacy organizations and key opinion leaders to build the programs. Expert researchers produce original research insights and publications, as well as partner with academic institutions and pharmaceutical companies to make progress towards new treatments.
Disclaimer: AllStripes is a Public Benefit Corporation funded by private investors. Child Neurology Foundation does not specifically endorse products provided by AllStripes.
Beyond Batten Disease Foundation
Beyond Batten Disease Foundation (BBDF) was established to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure. BBDF has raised and invested over $35 million to support research to find a treatment for CLN3 Batten disease and will sponsor a clinical trial to open in 2021. In September 2021, BBDF formed a sponsorship agreement with Care Beyond Diagnosis (CBD) to establish internationally validated management guidelines for CLN3 Disease (juvenile Batten disease).
Batten Disease Support and Research Association
The Batten Disease Support and Research Association (BDSRA) is the largest support and research organization in North America for families affected by this disease. BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action. There are similar family support groups in the United Kingdom, Australia, Finland, Germany, Norway, Denmark and other countries. BDSRA is happy to provide whatever support they can to families in countries without support organizations. BDSRA holds monthly virtual programming open to all Batten families to educate and foster community and hosts a private Batten Disease Facebook group with over 1,500 members. You can also engage with the community on their social media platforms and receive updates by subscribing to the Monthly Illuminator Newsletter.
One of the most important steps toward finding effective medical treatments for Batten disease and advancing clinical research is collecting as much data as possible and assembling it in a single database. Please visit the University of Rochester Batten Center’s Ongoing Studies page to get more information and learn how you can participate. The URBC has been recognized by the BDSRA as a Batten Disease Center of Excellence.
Rare Sisters Batten Foundation
The Rare Sisters Batten Foundation (RSBF) aims to further the development of medical research for treatments and cures for CLN3 Batten disease. RSBF also provides financial assistance to families with children diagnosed with Batten disease. Currently the grants are available to families in the U.S. and are awarded on a case-by-case basis. The RSBF board determines eligibility and funds are awarded to vendors, and not paid directly to individual families.
Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF.