The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 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 > Leukodystrophies
Disease Category: Leukodystrophies
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 lipid membrane that insulates axons in the central nervous system.
Research groups studying this disease
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)View Disease Definition
8501: Myelin Disorders Biorepository Project (MDBP)
The purpose of this study is to: (a) define novel homogeneous groups of patients with leukodystrophies and work toward finding the cause of these disorders; (b) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (c) establish disease mechanisms in selected known leukodystrophies; (d) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; and (e) contacting subjects with specific diagnoses (or lack thereof) with information about other research studies or clinical programs that may be beneficial.
8502: GLIA-CTN EHR Data Extraction Project
This study seeks to query the Electronic Health Record (EHR) at participating institutions in an automated fashion in order to development a large-scale library of clinically pertinent natural history data for individuals with a confirmed diagnosis of leukodystrophy. Automated data extraction techniques will be supplemented by traditional/manual chart abstraction approaches to ensure data integrity. Data collection and analysis methodologies will undergo face validation, inter-rater reliability, reproducibility, longitudinal stability, internal validation and construct validity under the careful oversight of the GLIA-CTN Data Integration Core (DIC) based at the Children's Hospital of Philadelphia.
8503: GLIA-CTN AMN Motor Function Study
The goal of this clinical project is to create a portfolio of disease-specific outcome assessments to facilitate design and execution of future therapeutic trials for adults with AMN. Specifically, investigators will determine the ability of a novel AMN rating scale to measure function, including a comparison of the trajectory between this rating scale and the Patient Reported Outcome (PRO) data obtained via RDCRN Protocol No. 8501. Finally, investigators will assess the rate of change in quantitative ataxia measures using force plate technology, and then compare this to wearable devices in enrolled individuals.
8504: GLIA-CTN CSF Biomarker Study
The primary objective of this research study is to identify and validate novel biomarkers in CSF, and to establish their correlation to clinical features and outcomes in specific leukodystrophies; for example, we propose to explore known protein biomarkers in AGS and AxD, including GFAP, NFL, and IP10, as well as candidate biomarkers such as inflammatory proteins including cytokines and chemokines, structural proteins, cell surface proteins, and markers of myelination and neuronal function. The study also seeks to characterize the stability of known and novel biomarkers under different shipping and storage conditions, which will allow investigators to explore the feasibility of multi-center biomarker collection procedures, with centralized processing and storage, in preparation for similar approaches in the context of future clinical trials for various leukodystrophies. Assay validity will be investigated using both intra- and inter-assay measurements.
Brings together patients, families, advocates, physicians, scientists, and other stakeholders centered around adrenoleukodystrophy (ALD).
Alex, The Leukodystrophy Charity
Offers support and information for all those affected by a genetic leukodystrophy.
Cure GM1 Foundation
Funds research to benefit all individuals affected by GM1 gangliosidosis.
Global DARE Foundation
Promotes worldwide awareness and better quality of life for all who are diagnosed with adult Refsum disease.
Hunter's Hope Foundation
Supports and encourages those affected by Krabbe disease and related leukodystrophies.
Aims to support individuals and families affected by leukodystrophy, raise awareness, and encourage leukodystrophy-related research.
Leukodystrophy Newborn Screening Action Network
Champions the cause of newborn screening for leukodystrophies and lysosomal storage disorders.
Mission Massimo Foundation
Promotes the prevention, diagnosis, and treatment of childhood leukodystrophies.
The Yaya Foundation for 4H Leukodystrophy
Fights for people affected by 4H (POLR3-related) leukodystrophy.
Provides a platform to amplify the voice of patients, aiding researchers and drug developers in accelerating research for better treatments for Krabbe disease.
MLD Support Association UK
Aims to bring hope to families in the fight to eradicate metachromatic leukodystrophy (MLD) by providing support and information on research and treatments.
Aicardi-Goutières Syndrome Advocacy Association
Aims to eradicate Aicardi-Goutiéres syndrome and improve the lives of impacted families through medical advancement, direct support, and advocacy.
Aims to help families impacted by metachromatic leukodystrophy (MLD) by connecting them with resources, information, and support.
Fundación Lautaro te Necesita
Su misión es mejorar la calidad de vida de las personas afectadas por leucodistrofias impulsando la investigación y la educación para lograr diagnósticos tempranos que posibiliten el acceso a tratamientos adecuados.
A Rare Ruby
By connecting families and supporting leukodystrophy research, A Rare Ruby has established itself as one of the key resources for individuals and families affected by H-ABC and TUBB4A-related leukodystrophy.
The ADLD Center’s mission is to support research into various aspects of Autosomal Dominant Leukodystrophy. They aim to enable research on pathology and therapy, while helping create a support network to disseminate relevant information. Their work includes raising ADLD awareness among physicians, scientists, and the public, supporting relevant research through grants, providing a caring and educational community for patients and their families, a serving as a unique information resource.
ALD Alliance, formerly known as the Aidan Jack Seeger Foundation, helps families across the United States that are newly diagnosed with adrenoleukodystrophy (ALD) by giving them the resources they need to fight this rare and devastating disease.
Arrivederci ALD's focus is identifying and funding scientific and medical research that will lead to more effective treatments and a cure for ALD and AMN. They also engage in advocacy and awareness efforts to support individuals and families across the country suffering from ALD.
Bethany’s Hope Foundation
Bethany's Hope Foundation was founded over two decades ago and has been instrumental in raising funds to support groundbreaking research on metachromatic leukodystrophy (MLD) in Canada.
Chloe’s Fight Rare Disease Foundation
Chloe’s Fight Rare Disease Foundation is dedicated to supporting the development of cures and treatments for childhood lysosomal storage diseases (LSDs) by funding research, advocating policy for patients, and raising awareness.
The CTX Alliance’s mission is to support, educate, and provide a voice for CTX patients and their caregivers as researchers work toward a cure. Their purpose is to provide education, support, advocacy, and promote innovative research for patients affected with Cerebrotendinous Xanthomatosis (CTX), as well their families and medical professionals who treat and study this rare disease.
Cure LBSL, formerly known as “A Cure For Ellie”, is an international foundation supporting patients and families affected by LBSL (Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation). Their mission is to bring awareness, support, and hope to patients and families, and to fund and accelerate research into potential treatments and cures.
Elise’s Corner is a community group focused on spreading awareness of Alexander disease and aiding research efforts to find treatments and a cure for this rare genetic disorder.
European Leukodystrophy Association
Provides assistance and support to families affected by leukodystrophy, funds research projects, raises public awareness, and collaborates with international organizations to pool resources to develop research.
Recognizing that many medical providers had little experience or education about adrenoleukodystrophy, Fight ALD was founded to provide newly diagnosed families with essential information about the disorder along with other key resources.
Gavin Flying for a Cure
Gavin Flying For A Cure was created to honor Gavin Quimby (Super Gav) and to bring awareness to metachromatic leukodystrophy (MLD). Read Gavin's story and find out how you can get involved.
Raises awareness and funds for Alexander disease and helps those with this rare disorder and other types of leukodystrophy get the care they need.
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.
Leukodystrophy Family Forum
Find answers to frequently asked questions and common issues shared by the leukodystrophy community. Access disease and research information and links to support resources.
Leukodystrophy Resource & Research Organisation
This group seeks to maximise health care resources, advance the world’s leading research and to provide premium support for all Australasian leukodystrophy families with the outcome being a cure.
National Tay-Sachs and Allied Diseases Association
NTSAD is one of the oldest patient advocacy groups in the country, focused on funding research, providing support services to families and individuals worldwide, and raising awareness to prevent disease.
Remember The Girls
Their mission is to raise awareness of the many issues facing female carriers of x-linked recessive genetic disorders; to provide a forum for x-linked females to share their stories, ask questions, provide and receive emotional support, and develop friendships; and to advocate for increased attention of the medical community to the physical and emotional issues of females who carry x-linked disorders.
Sisters’ Hope Foundation
The mission of Sisters’ Hope Foundation is to support and empower families impacted by hereditary diffuse leukoencephalopathy with spheroids (HDLS) and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) by educating the public to increase awareness around this rare disease, advocating for further research and funding to improve treatment options, connecting patients and families with this diagnosis to build community and support, and providing financial assistance and resources to those in need.
The Calliope Joy Foundation
Their fundraising efforts helped establish the nation's first Leukodystrophy Center of Excellence at CHOP. Learn about their cupcake challenge and how to get involved, and find information about current and upcoming clinical trials.
The Canavan Foundation
The Canavan Foundation is a not-for-profit organization dedicated to educating at-risk populations about Canavan disease and other Jewish genetic diseases and supporting research looking into a cure.
The Foundation to Fight H-ABC
Provides information about H-ABC to spread awareness about this degenerative disease, and raises funds for research on gene therapy treatments that could stop the degenerative effects of H-ABC.
The Legacy of Angels Foundation (TLOAF)
Works to promote the expansion of newborn screening, and to further education, awareness and research of Krabbe disease and cystic fibrosis to provide a better treatment and a cure for children.
The M.O.R.G.A.N Project
The M.O.R.G.A.N. Project is a national, community-based organization of volunteers dedicated to promoting awareness and facilitating support of parents caring for their children/young adults with special healthcare needs.
The Stop ALD Foundation
The Stop ALD Foundation focuses on accelerating the process of developing new knowledge and new therapies for adrenoleukodystrophy, and works to accelerate implementation of newborn screening for ALD.
United Leukodystrophy Foundation (ULF)
ULF is a non-profit, voluntary health organization dedicated to funding cutting-edge research and to providing patients and their families with disease information and medical referrals.