As the rare disease community strives to better understand Batten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan., consider these tools and partner sites for continued learning about life with this disease.
Batten Disease Clinical Trials
There is a growing body of research on Batten Disease and the CLN5 and CLN7 subtypes in particular, as well as the various CLN7 or CLN5 gene A variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.” that cause the disease. This research is intended to fuel advances for the Batten patient and healthcare community.
There are a limited number of trials related to Batten disease. All current A study conducted in humans that evaluates the effectiveness, safety, and side effects of investigational products (which could include medications, treatments, and devices) that have the possibility of treating a disease in that particular patient group. are listed on ClinicalTrials.gov.
Get to Know the Batten Disease Community
Batten Hope is a Dallas non-profit organization that supports CLN7 research and helps families with children diagnosed with rare neurodegenerative diseases become their own advocates for hope.
Mila’s Miracle Foundation is a family-led nonprofit organization with the mission of finding and funding paths to a cure for devastating neurological conditions like Batten disease. Our hope is that our work will give children like Mila a second chance at life.
BDSRA is the largest support and research organization dedicated to Batten disease in North America. BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action.
The Batten Disease Family Association (BDFA) is a UK non-profit that aims to support families, raise awareness, and facilitate research into the group of devastating neurodegenerative diseases commonly known as Batten disease.
Bee For Battens, as part of the Saoirse Foundation is a place where families and persons affected by Battens Disease can come together to help raise awareness about this devastating condition whilst providing support for one another. Our contacts and networking with other Battens Disease parents, families & Charities around the globe has grown and grown, which has provided us with the most reliable source of information and support available, from those who live with Battens day in day out.
Rare Diseases Clinical Research Network is a group committed to advancing medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.
Global Genes is an organization that helps to build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their rare diseases.
The National Organization for Rare Disorders (NORD®), an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. We work together to accelerate research, raise awareness, provide valuable information and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases.
EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.
EURORDIS-Rare Diseases Europe is a non-profit alliance of 864 rare disease patient organizations from 70 countries that work together to improve the lives of the 30 million people living with rare disease in Europe.
Genetic Alliance is an advocacy organization that engages individuals, families, and communities to transform health.
The Child Neurology Foundation connects partners from all areas of the child neurology community so those navigating the journey of disease diagnosis, management, and care have the ongoing support of those dedicated to treatments and cures.
The Alliance for Regenerative Medicine is an international community of small and large companies, non-profit research institutions, patient organizations, and other sector stakeholders dedicated to realizing the promise of regenerative medicine for patients around the world.
The ARM Foundation for Cell and Gene Medicine educates, engages, and empowers patients, caregivers, industry leaders, and other stakeholders to help advance the science and benefits of gene and cell therapy.
The Mighty is a supportive health community for people facing challenges and their families.
Established in 1996, the National Alliance for Caregiving is a non-profit coalition of national organizations focusing on advancing family caregiving through research, innovation, and advocacy. The Alliance conducts research, does policy analysis, develops national best-practice programs, and works to increase public awareness of family caregiving issues. Recognizing that family caregivers provide important societal and financial contributions toward maintaining the well-being of those they care for, the Alliance supports a network of more than 80 state and local caregiving coalitions and serves as Founder and Secretariat for the International Alliance of Carer Organizations (IACO).
Medical articles published about Batten Disease (CLN5/7) can be found below
Wheeler, R. B., Sharp, J. D., Mitchell, W. A., Bate, S. L., Williams, R. E., Lake. B. D., & Gardiner, R. M. (1999). A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7, Molecular Genetics and Metabolism, 66(4): 337-338. Retrieved August 16, 2019, from link.
Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E., & Peltonen, L. (1998). CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genetics, 19: 286-288. Retrieved August 16, 2019, from link.
McBride, J. L., Neuringer, M., Ferguson, B., Kohama, S. G., Tagge, I. L., Zwieg, R. C., Renner, L. M., McGill, T. J., Stoddard, J., Peterson, S., Su, W., Sherman, L. S., Domire, J. S., Ducore, R. M., Colgin, L. M., & Lewis, A. D. (2018, Nov.). Discovery of a CLN7 model of Batten disease in non-human primates, Neurobiology of Disease, 119: 65-78. Retrieved December 17, 2019, from link.