Lysosomal Disease Network

At a Glance
  • Status: Active Consortium
  • Year Launched: 2004
  • Initiating Organization: NIH Rare Disease Clinical Research Network
  • Initiator Type: Government
  • Rare disease
  • Disease focus:
    Alpha-Mannosidosis Types I / Ii, Aspartylglucosaminuria, Batten disease, Batten disease late infantile, Beta-mannosidosis, Cystinosis, Danon disease, Fabry disease, Farber disease, Fucosidosis, Galactosialidosis types I/II, Gaucher disease, Hunter syndrome, GM1-Gangliosidosis types I/II/III, GM2-Gangliosidosis, Hurler syndrome, I-cell disease, Krabbe disease, Maroteaux-Lamy syndrome, Metachromatic leukodystrophy, Morquio syndrome, Mucolipidosis type IV, Mucopolysa, Multiple sulfatase deficiency, Niemann-Pick disease, Northern Epilepsy, Pompe disease, psuedo-Hurler polydystrophy, Pycnodysostosis, Sandhoff disease, Sanfilippo syndrome A/B/C/D, Scheie syndrome, Schindler disease, Sialidosis types I/II, Sialuria, Salla disease, Sly syndrome, Tay-Sachs disease, Vogt-Spielmeyer disease, Wolman disease
  • Location: North America


The combined and integrated efforts of the Lysosomal Disease Network will focus limited resources toward creating a network of centers with expertise in one or more of these diseases in order to solve major challenges in diagnosis, disease management, and therapy. Solutions to these problems will have direct impact on patients suffering from lysosomal diseases and important implications for medical practice.


The network is studying the following diseases:
alpha-Mannosidosis types I / II
Batten disease
Batten disease, late infantile
Danon disease
Fabry disease
Farber disease
Galactosialidosis types I / II
Gaucher disease
GM1-Gangliosidosis types I/II/III
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Maroteaux-Lamy syndrome
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis type IV
Mucopolysaccharidosis type IX
Multiple sulfatase deficiency
Niemann-Pick disease
Northern Epilepsy
Pompe disease
pseudo-Hurler polydystrophy
Sandhoff disease
Sanfilippo syndrome A
Sanfilippo syndrome B
Sanfilippo syndrome C
Sanfilippo syndrome D
Scheie syndrome
Schindler disease
Sialidosis types I / II
Sialuria, Salla disease
Sly syndrome
Tay-Sachs disease
Vogt-Spielmeyer disease
Wolman disease

Structure & Governance

This consortium is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS). The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation.

Funding and scientific oversight for the RDCRN are provided by NCATS and 10 NIH components: Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Cancer Institute; the National Heart, Lung and Blood Institute; National Institute of Allergy and Infectious Diseases; the National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Dental and Craniofacial Research; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; and Office of the Director. In addition, patient advocacy groups provide funds for many of the projects.

Points of Contact

Chester B. Whitley, Ph.D., M.D.
Principal Investigator, Lysosomal Disease Network
Professor, Pediatrics
University of Minnesota Twin Cities
MMC 446 Mayo
420 Delaware Street, SE
Minneapolis, MN 55455

David CC Erickson
Informatics Director, Lysosomal Disease Network
phone: 612-624-7975

James C. Cloyd, Pharm.D.
Co-Principal Investigator, Lysosomal Disease Network
phone: 612-743-3854

Brenda Diethelm-Okita, M.P.A.
Program Manager, Lysosomal Disease Network
phone: 612-625-1594

Evelyn S. Redtree, M.S.
Writer & Editor, Indications
The newsletter of the Lysosomal Disease Network

Sponsors & Partners

Albert Einstein College of Medicine, Children’s Hospital at Montefiore

Baylor Research Institute and Baylor College of Medicine

Duke University

Emory University School of Medicine

Hospital for Suck Children

Joan and Sanford Weill Medical College of Cornell University

Los Angeles Biomedical Research Institute at Harbor- UCLA Medical Center

Mayo Clinic, Rochester

New York University School of Medicine

State University of New York

University of California at San Francisco

University of Minnesota

University of Washington

Last Updated: 04/15/2016

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