Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific g...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
The documentation on leukodystrophies is limited primarily due to their rarity, which affects fewer than 200,000 individuals in the U.S. This results in fewer systematic clinical studies and a lack of comprehensive data on phenotypes and clinical features. Additionally, the genetic basis for these conditions has only been partially elucidated, leading to ongoing efforts to better characterize them.
To navigate leukodystrophy, consider seeking a neurologist with expertise in leukodystrophies or related genetic disorders. Engaging with patient organizations such as the United Leukodystrophy Foundation (https://ulf.org) or the European Leukodystrophy Association (https://ela-asso.com) can provide valuable resources and support. Additionally, inquire about participation in natural history studies or registries to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Currently, there are 30 active clinical trials focused on leukodystrophy. These trials aim to explore various treatment options and interventions, although no orphan drugs have been designated for this condition. For more information on ongoing research, you can visit the ClinicalTrials.gov search link: https://clinicaltrials.gov/search?cond=leukodystrophy.
Actionable guidance for navigating care for leukodystrophy
To navigate leukodystrophy, consider seeking a neurologist with expertise in leukodystrophies or related genetic disorders. Engaging with patient organizations such as the United Leukodystrophy Foundation (https://ulf.org) or the European Leukodystrophy Association (https://ela-asso.com) can provide valuable resources and support. Additionally, inquire about participation in natural history studies or registries to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the leukodystrophy community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 10, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning leukodystrophy
Updated Jan 27, 2026
Rare Disease Day, observed on February 28, aims to raise awareness and advocate for equity in healthcare for individuals with rare diseases. Coordinated by EURORDIS and over 70 patient organizations, the campaign highlights the importance of community voices in driving change.