Lysosomal Disease Network

LDN Studies:

6702: Natural History and Structural Functional Relationships in Fabry Renal Disease

6703: Longitudinal Studies of Brain Structure and Function in MPS Disorders

6704: The Natural History of Mucolipidosis type IV

6705: Longitudinal Study of Bone and Endocrine Disease in Children with MPS I, II and VI: A Multicenter Study of the Lysosomal Disease Network

6706: A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency

6707: Characterizing the Neurobehavioral Phenotype(s) in MPS III (Pilot Study)

6708: Pulmonary Disease and Exercise Tolerance in Boys with Fabry Disease

6709: LongitudinalFollow-up of Individuals with Infantile Pompe Disease

6710: Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children 

6711: Expanded Screening for the Fabry Trait protocol

6712: Longitudinal Studies of the Glycoproteinoses

6713: A Natural History Study of Hexosaminidase Deficiency

6714: A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I

6715: Longitudinal Study of Cognition with Niemann-Pick Disease, Type C

6716: Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

6717: Clinical and Neuropsychological Investigations inBatten Disease

6718: Gene Therapy for Tay-Sachs Disease. Phase 1: Natural History Data Gather

6719: Immune Response to Intrathecal Enzyme Therapy in Mucopolysaccharidosis 1 Patients

6720: Carotid Structure and Function in Mucopolysaccharidosis (MPS) Syndrome: A Multicenter Study of the Lysosomal Disease Network

6721: Intravenous N-acetylcysteine for the treatment of Gaucher’s disease and Parkinson’s disease

Diseases Being Studied

  • Aspartylglucosaminuria
  • Wolman disease
  • Cystinosis
  • Danon disease
  • Fabry disease
  • Farber disease
  • Fucosidosis
  • Gaucher disease
  • GM1-Gangliosidosis types I/II/III
  • GM2-Gangliosidosis
  • alpha-Mannosidosis types I / II
  • beta-Mannosidosis
  • Metachromatic leukodystrophy
  • Sialidosis types I / II
  • Mucolipidosis type IV
  • Scheie syndrome
  • Hunter syndrome
  • Sanfilippo syndrome A
  • Sanfilippo syndrome B
  • Sanfilippo syndrome C
  • Sanfilippo syndrome D
  • Galactosialidosis types I / II
  • Krabbe disease
  • Sandhoff disease
  • Vogt-Spielmeyer disease
  • Hurler syndrome
  • Niemann-Pick disease
  • I-cell disease
  • pseudo-Hurler polydystrophy
  • Morquio syndrome
  • Maroteaux-Lamy syndrome
  • Sly syndrome
  • Mucopolysaccharidosis type IX
  • Multiple sulfatase deficiency
  • Batten disease
  • Tay-Sachs disease
  • Pompe disease
  • Batten disease
  • Batten disease, late infantile
  • Northern Epilepsy
  • Pycnodysostosis
  • Schindler disease
  • Sialuria, Salla disease

About the Lysosomal Disease Network

Although individually rare "orphan" conditions, the lysosomal diseases collectively affect 1 in 6,000 individuals and are responsible for a significant disability and disease burden. These diseases have become a test bed for some of the most innovative and advanced experimental treatments. The rarity of each lysosomal disease means that no single medical research center has an opportunity to see the entire spectrum, or to acquire sufficient numbers to adequately test new therapies. 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.

Refer Patients to the Contact Registry

Download the LDN Contact Registry enrollment form [.pdf]

Contact Information

Chester B. Whitley, PhD, MD
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

Elsa G Shapiro, PhD
Co-Principal Investigator, Lysosomal Disease Network
Phone: (612) 625-1618

Brenda Diethelm-Okita
Program Coordinator, Lysosomal Disease Network
Phone: (612) 625-1594


Participating Clinical Sites



Alpha-mannosidosis and Aspartylglucosaminuria


Danon Disease

Fabry Disease


Gaucher Disease

Krabbe disease


Mucolipidosis I (Sialidosis)

Mucolipidosis II/III (I-cell and pseudo-Hurler Polydystrophy)

Mucolipidosis IV

  • Mucolipidosis IV Foundation
    Paul Tanenholz, President
    719 East 17th Street Brooklyn, New York 11230
    877-654-5459 (toll free)


  • Jonah's Just Begun
    (For MPS IIIC / Sanfilippo syndrome type C)

    Jill Wood P.O. Box 150057 Brooklyn, NY 11215

  • National Mucopolysaccharidoses (MPS) Society
    Barbara Wedehase, MSW, CGC
    Executive Director
    4220 Apex Highway, Suite 140
    Durham, NC 27713

Neuronal ceroid lipofuscinosis (Batten disease)

Niemann-Pick Disease

  • Hide and Seek Foundation for Lysosomal Disease Research
    Stephanie Lyn
    6475 Pacific Coast Highway, Suite 466
    Long Beach, CA 90803
    F: 562.621.0022

  • National Niemann-Pick Disease Foundation
    PO Box 49, Fort Atkinson, WI 53538

  • The Ara Parseghian Medical Research Foundation
    3530 E. Campo Abierto, Suite 105, Tucson, AZ 85718

    Cindy Parseghian

Pompe Disease

Schindler disease

Tay Sachs, Canavan and related genetic diseases

  • National Tay-Sachs and Allied Diseases Association Sue R. Kahn, ED
    2001 Beacon Street, Suite 204, Boston, MA 02135

Wolman Disease

About the RDCRN

The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and the Office for Rare Diseases Research (ORDR). RDCRN was created to facilitate collaboration among experts in many different types of rare diseases. Our goal is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment. More About the RDCRN >

NIH does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government. Read Disclaimer >