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 > 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 Disease Network (LDN)
Acid Maltase Deficiency Association
Funds research and promotes public awareness of acid maltase deficiency, also known as Pompe’s disease.
Addi & Cassi Fund (For Niemann-Pick disease type C)
Advocates for individuals with Niemann-Pick type C and their families.
Fabry Australia, Inc.
Unites and supports the Australian Fabry community.
Advocates for patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).
Ara Parseghian Medical Research Foundation
Aims to find a treatment or cure for Niemann-Pick type C (NPC) disease.
Australian Pompe's Association, Inc.
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.
Ben's Dream Sanfilippo Research Foundation
Promotes awareness and raises funds to support research aimed at finding a cure for all types of Sanfilippo syndrome.
Canadian Association of Pompe
Helps Pompe patients and their families in Canada through education, support, and community.
Canadian Fabry Association
Encourages and supports research into the causes, treatment, and management of Fabry disease.
Canadian MPS Society
Offers support and education programs for those managing the diagnosis and progression of mucopolysaccharide (MPS) and related diseases.
MSD Action Foundation
Promotes and supports research leading to positive clinical outcomes and quality of life for patients affected by multiple sulfatase deficiency.
Chloe's Fight Rare Disease Foundation
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.
Cure Sanfilippo Foundation
Accelerates research to find the first-ever FDA-approved treatment or cure for Sanfilippo syndrome.
Educates and supports patients, families, and medical professionals for cystinosis.
Cystinosis Research Foundation
Supports bench, clinical, and translational research to find better treatments and a cure for cystinosis.
Cystinosis Research Network
Supports and advocates for research, provides family assistance, and educates the public and medical communities about cystinosis.
Fabry Support & Information Group
Supports the needs of the Fabry disease community by providing information, education, and advocacy.
Gaucher & LSD Society of South Africa
Aims to improve the lives of all lysosomal storage disease patients in South Africa.
International Society for Mannosidosis and Related Diseases
Advocates for families and patients affected by glycoprotein diseases.
Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc
Raises and distributes funds to academic research groups focused on finding treatments for Sanfilippo syndrome, mucopolysaccharidosis (MPS) III.
Mucolipidosis IV Foundation
Funds, promotes, and supports medical research dedicated to developing treatments and a cure for ML4.
Nathan's Battle Foundation
Utilizes entrepreneurial spirit and techniques to seek out and develop promising therapeutic approaches for late infantile Batten disease.
National Fabry Disease Foundation
Assists with disease education, diagnosis, support, research, and advovcacy for the Fabry disease community.
National Niemann-Pick Disease Foundation Inc.
Supports and empowers patients and families affected by Niemann-Pick disease through education, collaboration, and research.
Salla Treatment and Research Foundation
Supports Salla disease treatments, research, education, awareness, and family networks.
Association for Glycogen Storage Disease
Supports individuals with glycogen storage disease (GSD) and their families through information, awareness, and support of research.
Charlotte and Gwenyth Gray Foundation
Works to improve and save the lives of all children impacted by Batten disease and other neurodegenerative disorders.
Children's Gaucher Disease Research Fund
Unites families and raises funds to support research to find a cure for type 2 and type 3 Gaucher disease.
National Gaucher Foundation
Serves U.S. patients with Gaucher disease and their families through financial support, education, patient services, and collaboration with medical professionals.
National Mucopolysaccharidoses (MPS) Society
Provides support for families and fosters research for a cure for mucopolysaccharide (MPS) disease.
National Tay-Sachs & Allied Diseases Association, Inc.
Aims to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community.
New Hope Research Foundation
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.
Cure Tay-Sachs Foundation
Funds the ongoing research needed to find treatments and a cure for Tay-Sachs disease while promoting carrier testing and awareness initiatives.
Hide and Seek Foundation for LDN Research
Works to find a cure for the lysosomal disease Niemann-Pick type C (NPC).
Project Alive (for Hunter syndrome)
Serves as a voice for children and adults with Hunter syndrome (mucopolysaccharidosis or MPS II), working to find a cure through research and advocacy.
Quebec Coalition of Orphan Diseases
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.
Rare Disorders NZ
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.
Sanfilippo Children's Foundation
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.
The Isaac Foundation
Funds research projects that aim to find a cure for mucopolysaccharidosis (MPS); advocates and provides support for families of individuals suffering from MPS.
The Legacy of Angels Foundation
Works to promote the expansion of newborn screening and to further education, awareness, and research of Krabbe disease and cystic fibrosis.
The National Gaucher Foundation of Canada
Aims to improve the health and wellbeing of Canadian Gaucher patients through education, advocacy, and support of research.
Supports children and adults with lysosomal acid lipase (LAL) deficiency, cholesteryl ester storage disease (CESD), and Wolman disease.
Lysosomal Diseases New Zealand
Provides information on rare lysosomal diseases and support for affected families in New Zealand.
Lysosomal Storage Disorders Support Society
Works to raise awareness and offer education and support on lysosomal storage disorders in India.
The Quinn Madeleine Foundation
Aids in the prevention of Niemann-Pick disease type A (also known as ASMD), as well as supports research on treatments and a cure.
The Ryan Foundation
Raises awareness and funding for orphan disease research, with a focus on mucopolysaccharidos type I (MPS I) and related diseases.
The Society for Mucopolysaccharide Diseases (UK)
Provides support across the United Kingdom to families affected by one of 25 rare, life-limiting genetic conditions.
United Pompe Foundation
Assists patients and/or their families with medical costs and other expenses related to Pome Disease.
Hunter's Hope Foundation
Supports and encourages those affected by Krabbe disease and related leukodystrophies.
United MSD Foundation
Aspires for all children with multiple sulfatase deficiency (MSD) to lead a healthy life without limitations.
The Sanfilippo Children's Research Foundation
Funds medical research into Sanfilippo syndrome and its related neurogenetic diseases.
Cure GM1 Foundation
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.
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.
Batten Disease Support and Research Association
Determined to provide unwavering support, fund progressive research, and be a source of steadfast advocacy for all ceroid lipofuscinosis, neuronal (CLN) types.