Lysosomal Disease Network

 

About the Lysosomal Disease Network

www.lysosomaldiseasenetwork.org

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.

Diseases Being Studied

  • 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
  • GM1-Gangliosidosis types I/II/III
  • GM2-Gangliosidosis
  • 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
  • Pycnodysostosis
  • 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

Join the Contact Registry

The RDCRN Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.

You (or your child) are invited to participate in a research project that will develop a nation-wide contact registry for patients.

Join the LDN Contact Registry online

or download Contact Registry Interest Form [.pdf]

Research 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

6709: Longitudinal Follow-up of Individuals with Infantile Pompe Disease

6711: Expanded Screening for the Fabry Trait protocol

6713: A Natural History Study of the Gangliosidoses

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

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

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

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

6722: Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications

6725: Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy

6726: Hunter James Kelly Research Institute Clinical Data Base of Patients with Krabbe Disease: A World Wide Registry

6727: Determinants of Renal Structural Responses to Enzyme Replacement Therapy in Fabry Disease Study and Podocytes in Fabry Renal Disease

6728: An Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I

6729: Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G)

Participating Clinical Sites

  • Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York City, NY
  • Baylor Research Institute and Baylor College of Medicine, Dallas, TX
  • Children's Hospital and Research Center Oakland, Oakland, CA
  • Duke University, Durham, NC
  • Emory University School of Medicine, Decatur, GA
  • Hospital for Sick Children, Toronto, Ontario, Canada
  • Joan and Sanford Weill Medical College of Cornell University, New York City, NY
  • Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA
  • Mayo Clinic, Rochester, MN
  • New York University School of Medicine, New York City, NY
  • State University of New York, University at Buffalo, Buffalo, NY
  • University of California at San Francisco, San Francisco, CA
  • University of Minnesota, Minneapolis, MN
  • University of Washington, Seattle, WA

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
E-mail: whitley@umn.edu

David CC Erickson
Informatics Director, Lysosomal Disease Network
Phone: (612) 624-7975
E-mail: erick259@umn.edu

James C. Cloyd, PharmD
Co-Principal Investigator, Lysosomal Disease Network
Phone: (612) 624-4609
E-mail: cloyd001@umn.edu

Brenda Diethelm-Okita, MPA
Program Manager, Lysosomal Disease Network
Phone: (612) 625-1594
E-mail: dieth001@umn.edu

Evelyn S. Redtree, MS
Writer & Editor, Indications
The newsletter of the Lysosomal Disease Network
E-mail: LDNed@umn.edu


Advocacy

Alpha-mannosidosis and Aspartylglucosaminuria

Cystinosis

Danon Disease

Fabry Disease

  • Fabry Support and Information Group
    www.fabry.org
    Jack Johnson, Founder
    info@fabry.org
    PO Box 510
    Concordia, MO 64020
    660-463-1355
    660-463-1356

  • The National Fabry Disease Foundation
    Jerry Walter, Founder and President
    jerry.walter@thefdf.org

    4301 Connecticut Ave. NW, Suite 404
    Washington, DC 20008
    (800) 651-9131

Fucosidosis

Gangliosidoses

Gaucher Disease

Glycogen Storage Diseases

 

Krabbe disease

Leukodystrophies

Mucolipidosis I (Sialidosis)

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

Mucolipidosis IV

  • Mucolipidosis IV Foundation
    www.ml4.org

    Rebecca Oberman, PhD
    roberman@ml4.org
    3500 Piedmont Road, Suite 500
    Atlanta, GA 30305
    404-510-2577

Mucopolysaccharidosis

  • Ben's Dream Sanfilippo Research Foundation
    bensdream.org
    P.O. Box 81268
    Wellesley, MA 02481-0002
    617-899-4158
  • The Canadian MPS Society (The Canadian Society for Mucopolysaccharide & Related Diseases Inc.)
    www.mpssociety.ca
    Jill Ley, Interim Manager
    manager@mpssociety.ca
    #218-2055 Commercial Drive
    Vancouver, BC V5N 0C7
    Canada
    1-800-667-1846 or 604-924-5130

Neuronal ceroid lipofuscinosis (Batten disease)

Niemann-Pick Disease

  • Addi & Cassi Fund (for Niemann-Pick type C)
    addiandcassi.com
    59 Damonte Ranch Parkway
    Suite B360
    Reno, NV 89511
    800-517-2542

  • The Ara Parseghian Medical Research Foundation
    www.parseghian.org
    Cindy Parseghian
    cparseghian@parseghian.org
    3530 E. Campo Abierto, Suite 105
    Tucson, AZ 85718
    520-577-5106
    520-577-5212

  • Hide and Seek Foundation for Lysosomal Disease Research
    www.hideandseek.org
    Stephanie Lyn
    Stephanie@hideandseek.org
    6475 Pacific Coast Highway, Suite 466
    Long Beach, CA 90803
    562-621-1122
    F: 562.621.0022

  • National Niemann-Pick Disease Foundation
    www.nnpdf.org
    Nadine Hill, Executive Director
    PO Box 49
    Fort Atkinson, WI 53538
    nnpdf@nnpdf.org
    920-563-0930
    920-563-0931

Pompe Disease

Schindler disease

Wolman Disease