Resources
As the rare disease community strives to better understand Batten diseaseBatten 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 participating in research, and accessing 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 diseaseBatten 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. and the CLN5 subtype in particular, as well as the various CLN5 gene variantsA 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 clinical trialsA 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.
Batten Disease Resources
BDSRA is the largest support and research organization dedicated to Batten diseaseBatten 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. 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.
https://www.bdsra.org/
The Batten DiseaseBatten 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. 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.
http://www.bdfa-uk.org.uk/
Additional Resources
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.
www.rarediseases.org
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.
www.globalgenes.org
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.
https://www.childneurologyfoundation.org/
EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.
www.everylifefoundation.org
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.
https://www.eurordis.org/
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.
https://www.rarediseasesnetwork.org/
Genetic Alliance is an advocacy organization that engages individuals, families, and communities to transform health.
www.geneticalliance.org
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.
https://alliancerm.org/
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.
www.thearmfoundation.org
The American Society of Gene and Cell Therapy (ASGCT) is a professional membership organization for scientists, physicians, advocates, and other professionals in gene and cell therapy. A goal of the Society is to provide timely, accurate, and responsible information about gene and cell therapy to patients and their families through the Patient Education website, including resources on gene therapy for Batten diseaseBatten 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..
https://patienteducation.asgct.org/disease-treatments/batten
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).
https://www.caregiving.org/
Courageous Parents Network’s (CPN) mission is to empower, support and equip families and providers caring for children with serious illness. CPN’s vision promotes the family’s journey as one in which they have confidence in their ability to be the best caregivers they can possibly be, resulting in minimal regret and maximal healing. CPN resources include 500+ original short videos, a blog, curated content modules (Guided Pathways) and downloadable guides on topics spanning the wide range of issues including coping with the diagnosis, understanding anticipatory grief, working with the medical team, making difficult decisions about medical interventions and coping following loss. Much of this content is also offered in Spanish.
https://courageousparentsnetwork.org/
The Mighty is a supportive health community for people facing challenges and their families.
www.themighty.com
Medical articles published about Batten Disease (CLN5) can be found below
Azad, B. et al. (2020). Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. Journal of the Neurological Sciences 414, 116826.
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.
Simonati, A. et al. (2017). Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5. Dev Med Child Neurol 59, 815-821.
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