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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 > Lysosomal Disorders

Lysosomal Disorders

Disease Category: Lysosomal Diseases

The rare conditions known as lysosomal diseases affect 1 in 3,000 people and can cause severe illness and disability. In lysosomal diseases, chemicals build up in the body's cells. This buildup kills the cells, which can lead to death of the patient.

Research groups studying this disease

Lysosomal Diseases
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Lysosomal Disease Network (LDN)


This proposal aims to study the natural history and ERT effect on cardiac and vascular tissue in Fabry disease using unbiased quantitative validated morphometric approaches with functional and imaging correlations. These studies will substantially improve our understanding of the pathophysiology of cardiovascular and renal complications in Fabry and can introduce new approaches to quantify treatment response in cardiomyocytes and arteriol smooth muscle cells, with potential application in clinical trials and at the bedside. In addition to these histomorphometric studies, we propose to study autonomic dysfunction, a common complication in FD patients that is not well characterized, and the effect of ERT on this complication. The novel nature of this study lies in the analysis of tissues samples in a heretofore unused method that correlates tissue analysis with medical data to make determinations of kidney, cardiac, and skin tissue damage in Fabry disease.

Funds research and promotes public awareness of acid maltase deficiency, also known as Pompe’s disease.

Advocates for individuals with Niemann-Pick type C and their families.

Unites and supports the Australian Fabry community.

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

Aims to find a treatment or cure for Niemann-Pick type C (NPC) disease.

Supports the needs of Australian Pompe's disease patients, their families, and caregivers.

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

Helps Pompe patients and their families in Canada through education, support, and community.

Encourages and supports research into the causes, treatment, and management of Fabry disease.

Offers support and education programs for those managing the diagnosis and progression of mucopolysaccharide (MPS) and related diseases.

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

Aims to develop a pipeline of therapies for mucolipidosis alpha/beta, mucolipidosis gamma, and sialidosis.

Accelerates research to find the first-ever FDA-approved treatment or cure for Sanfilippo syndrome.

Promotes awareness and raises funds to support research aimed at finding a cure for all types of Sanfilippo syndrome.

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

Educates and supports patients, families, and medical professionals for cystinosis.

Supports bench, clinical, and translational research to find better treatments and a cure for cystinosis.

Supports and advocates for research, provides family assistance, and educates the public and medical communities about cystinosis.

Supports the needs of the Fabry disease community by providing information, education, and advocacy.

Aims to improve the lives of all lysosomal storage disease patients in South Africa.

Advocates for families and patients affected by glycoprotein diseases.

Raises and distributes funds to academic research groups focused on finding treatments for Sanfilippo syndrome, mucopolysaccharidosis (MPS) III.

Funds, promotes, and supports medical research dedicated to developing treatments and a cure for ML4.

Utilizes entrepreneurial spirit and techniques to seek out and develop promising therapeutic approaches for late infantile Batten disease.

Assists with disease education, diagnosis, support, research, and advovcacy for the Fabry disease community.

Supports and empowers patients and families affected by Niemann-Pick disease through education, collaboration, and research.

Supports individuals with glycogen storage disease (GSD) and their families through information, awareness, and support of research.

Works to improve and save the lives of all children impacted by Batten disease and other neurodegenerative disorders.

Unites families and raises funds to support research to find a cure for type 2 and type 3 Gaucher disease.

Serves U.S. patients with Gaucher disease and their families through financial support, education, patient services, and collaboration with medical professionals.

Provides support for families and fosters research for a cure for mucopolysaccharide (MPS) disease.

Aims to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community.

Aims to provide hope to families and find a genetic cure for GM2 gangliosidosis (Tay-Sachs Disease) and other lysosomal storage diseases of the central nervous system.

Aims to make a positive difference in the lives of those affected by Niemann-Pick disease and their families, from diagnosis and beyond.

Offrir un service d'information et de soutien pour les malades atteints d'une maladie rare et orpheline, leurs familles et pour les professionnels de la santé.

Funds the ongoing research needed to find treatments and a cure for Tay-Sachs disease while promoting carrier testing and awareness initiatives.

Works to find a cure for the lysosomal disease Niemann-Pick type C (NPC).

Serves as a voice for children and adults with Hunter syndrome (mucopolysaccharidosis or MPS II), working to find a cure through research and advocacy.

Offers a starting point for patients and families affected by rare disorders, helping families, patients, and healthcare providers find essential information and support groups.

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

Supports Salla disease treatments, research, education, awareness, and family networks.

Drives research for a world without Sanfilippo syndrome by funding research, providing information, raising awareness, advocating, and improving diagnosis.

Works to build a better future for Americans with rare diseases by advancing breakthrough treatments for Batten disease and advocating for life-changing public policies.

Funds research projects that aim to find a cure for mucopolysaccharidosis (MPS); advocates and provides support for families of individuals suffering from MPS.

Aims to improve the health and wellbeing of Canadian Gaucher patients through education, advocacy, and support of research.

Works to promote the expansion of newborn screening and to further education, awareness, and research of Krabbe disease and cystic fibrosis.

Supports children and adults with lysosomal acid lipase (LAL) deficiency, cholesteryl ester storage disease (CESD), and Wolman disease.

Provides information on rare lysosomal diseases and support for affected families in New Zealand.

Works to raise awareness and offer education and support on lysosomal storage disorders in India.

Aids in the prevention of Niemann-Pick disease type A (also known as ASMD), as well as supports research on treatments and a cure.

Provides support across the United Kingdom to families affected by one of 25 rare, life-limiting genetic conditions.

Assists patients and/or their families with medical costs and other expenses related to Pome Disease.

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

Raises awareness and funding for orphan disease research, with a focus on mucopolysaccharidos type I (MPS I) and related diseases.

Aspires for all children with multiple sulfatase deficiency (MSD) to lead a healthy life without limitations.

Funds medical research into Sanfilippo syndrome and its related neurogenetic diseases.

Funds research to benefit all individuals affected by GM1 gangliosidosis.

Provides a platform to amplify the voice of patients, aiding researchers and drug developers in accelerating research for better treatments for Krabbe disease.

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

Determined to provide unwavering support, fund progressive research, and be a source of steadfast advocacy for all ceroid lipofuscinosis, neuronal (CLN) types.