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Diseases Studied

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

All Diseases > Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD)

Alternative Names: Arylsulfatase-A Deficiency (ARSA Deficiency); Metachromatic Leukoencephalopathy

Disease Category: Leukodystrophies

A rare, inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down sulfatides (complex, fat-sugar molecules containing a sulfate group). Characteristic neurological symptoms include progressive intellectual disability, motor skill deterioration, seizures, incontinence, paralysis, peripheral neuropathy (muscle weakness and/or sensory loss in the limbs), speech, vision, and hearing loss, and unresponsiveness. Organs may also be impacted.

Research groups studying this disease


Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)


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.

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.

Champions the cause of newborn screening for leukodystrophies and lysosomal storage disorders.

Aims to support individuals and families affected by leukodystrophy, raise awareness, and encourage leukodystrophy-related research.

Promotes the prevention, diagnosis, and treatment of childhood leukodystrophies.

Aims to help families impacted by metachromatic leukodystrophy (MLD) by connecting them with resources, information, and support.

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.

Supports and encourages those affected by Krabbe disease and related leukodystrophies.

Aims to bring hope to families in the fight to eradicate metachromatic leukodystrophy (MLD) by providing support and information on research and treatments.

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 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.

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.

Offers support and information for all those affected by a genetic leukodystrophy.

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.

Find answers to frequently asked questions and common issues shared by the leukodystrophy community. Access disease and research information and links to support resources.

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.

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.

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.

Lysosomal Diseases
LDN logo

Lysosomal Disease Network (LDN)

Advocates for patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).

Provides compassion for families, increases awareness, influences and funds research, and promotes education for metachromatic leukodystrophy.

Promotes and supports research leading to positive clinical outcomes and quality of life for patients affected by multiple sulfatase deficiency.

Raises awareness for all rare diseases and funds research related to leukodystrophies.

Focuses on supporting the acceleration and development of life-altering treatments and future cures for patients impacted by a rare disease.

Supports and encourages those affected by Krabbe disease and related leukodystrophies.

Aims to bring hope to families in the fight to eradicate metachromatic leukodystrophy (MLD) by providing support and information on research and treatments.