Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > TUBB4A-related leukodystrophy
TUBB4A-related leukodystrophy
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the TUBB4A gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. TUBB4A-related leukodystrophy causes hypomyelination (low production of myelin) as well as reduced size and function of the basal ganglia and the cerebellum. People with TUBB4A-related leukodystrophy often experience motor problems, including stiffness of the muscles and joints, low muscle tone, difficulty with controlling movements, and problems with balance and coordination. Symptoms and progression differ depending on when the disease first appears, with severe symptoms earlier in life and milder symptoms later in life.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
H-ABC Foundation UK
H-ABC Foundation UK’s purpose is to promote and protect the physical and mental health of individuals living with H-ABC through the provision of support, education and practical advice to their families, to promote and fund medical research into the condition, and to advance the education of the public in all areas in relation to H-ABC.