Canine Genetics Laboratory – University of Missouri
The Canine Genetics Laboratory performs genetic testing for hereditary disorders in dogs and conducts research to identify the genetic basis of inherited diseases in dogs. Canine Genetic Disease Network // College of Veterinary Medicine (missouri.edu)
U.S. National Institutes of Health Information on Batten Disease
NINDS Batten Disease Information Page
This site offers an overview of Batten disease and ongoing research to find a cure.
Batten Diseases/ NCL Organizations and Foundations
Batten Disease Support and Research Association (BDSRA)
The BDSRA is a great resource for families who have children suffering from any of the multiple forms of these terrible diseases. The BDSRA provides a means by which families with affected children can come together to share their sorrows and joys, to support one another with love and information, and to advocate and raise funds to support research into finding cures for these sad disorders. We urge you to visit the BDSRA website to see whether this group may have something to offer you and your children.
NCL Foundation
The NCL Foundation Focus on promoting education, research, and fundraising to better diagnose NCL and work towards a cure.
Beyond Batten Disease Foundation
“Beyond Batten Disease Foundation was established to eradicate Batten disease.” The website includes a blog: “A place for those touched by Batten disease to share information, ideas and inspiration. The goal of this blog is to connect families, communities, researchers and supporters that are spread out across the globe.”
Batten Disease Family Association Offering resources to support families educate medical professionals and fundraise for research BDFA holds as its mission “to enable everyone who is affected by Batten disease to live life to the full and to secure the care and support they need until we find a cure.”
NCL Resource- A Gateway for Batten Disease
“This site serves as a global gateway for clinicians, families, researchers and those offering professional support, who have an interest in or are affected by Batten disease or who wish to find out more.”
National Organization for Rare Diseases (NORD)
This page offers general information on Batten’s Disease, its diagnosis and the progress towards finding a cure.
Nathan’s Battle
“We founded the Nathan’s Battle Foundation to aid in the development of therapies for this deadly disease. Through the foundations efforts we found a potential cure. In late 2000, we initiated a formal project with Cornell University’s Weill Medical College to develop this life saving treatment and initiate a clinical trial.”
Noah’s Hope
“We created the Noah’s Hope Fund to support research, raise funds, and inform the community” in order to find a cure for Batten disease.
Drew’s Hope
Drew’s Hope is dedicated to fundraising to find a cure for Batten Disease.
Hide and Seek Foundation
Nonprofit that raises awareness and supports research to find treatments and cures for lysosomal disorders. “SOAR (Support of Accelerated Research for NPC Disease) was created in 2008 to find a cure for one of the most devastating lysosomal diseases, Niemann Pick Type C (NPC). SOAR was created by parents and scientists as a grassroots response to the absence of treatments for this terminal disease. The SOAR collaborative is comprised of internationally recognized scientists from leading institutions where NPC research is conducted.”
Lysosomal Diseases of New Zealand
“Lysosomal Diseases NZ is a charitable trust dedicated to improve contact between families affected by lysosomal diseases within New Zealand, and supporting research into the causes and treatment of lysosomal diseases and improvements in the clinical care of affected people”
Companies Developing Treatments for Batten Disease
Clinical Trials for Batten Disease
NCL Resource – Treatment
This page has a table of current and completed human clinical trials.
- Website database – Links to Clinical Trial Reports
- Recruiting – Clinical and Neuropsychological Investigations in Batten Disease
- Recruiting – AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis With Uncommon Genotypes or Moderate/Severe Impairment
- Unknown – Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
- Recruiting – Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
- Recruiting – UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
- Terminated – Collection of Cerebrospinal Fluid in Healthy Children
- Recruiting – Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid
- Completed – Genotype – Phenotype Correlations of LINCL
- Active, not recruiting – Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
- Completed – Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
- Active, not recruiting – A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
- Active, not recruiting – A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease
- Recruiting – Human Placental-Derived Stem Cell Transplantation
- Completed, Has Results – Stem Cell Transplant for Inborn Errors of Metabolism
- Completed – Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)
- Completed, Has Results – Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis
- Withdrawn – Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
- Recruiting – Action of Ketamine in Treatment-Resistant Depression
Batten Disease Registries
National Batten Disease Registry
New York Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Rd
Staten Island, NY 10314 USA
Phone: (718) 494-5201
Toll-free: (800) 952-9628
Email: BattenKW@aol.com
- NCL Mutation and Patient Database – From UCL
- Inherited Retinal Degenerative Disease Registry
- Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford