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.

Join the RDCRN LDN Contact Registry

The RDCRN LDN 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 RDCRN LDN Contact Registry online

 
RDCRN LDN Contact Registry Interest Form
Download PDF

More Information:

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 (2)

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)

  • 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

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
Webmaster, www.lysosomaldiseasenetwork.org
Writer & Editor, Indications
The newsletter of the Lysosomal Disease Network
E-mail: LDNed@umn.edu

Alpha-mannosidosis and Aspartylglucosaminuria

  • International Society for Mannosidosis and Related Diseases
    www.ismrd.org
    Jenny Noble, Vice President & Administrator
    jenny.noble@xtra.co.nz
    167 Hollister Lane,
    Ohauiti, Tauranga, New Zealand
    Phone: 64 7 5448868

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

  • International Society for Mannosidosis and Related Diseases
    www.ismrd.org
    Jenny Noble, Vice President & Administrator
    jenny.noble@xtra.co.nz
    167 Hollister Lane,
    Ohauiti, Tauranga, New Zealand
    Phone: 64 7 5448868

Gangliosidoses

  • National Tay-Sachs and Allied Diseases Association
    www.ntsad.org
    Sue R. Kahn, Executive Director
    skahn@ntsad.org
    2001 Beacon Street, Suite 204
    Boston, MA 02135
    800-906-8723
    617-277-0134

Gaucher Disease

Glycogen Storage Diseases

Krabbe Disease

  • The Legacy of Angels Foundation
    (For Krabbe disease & cystic fibrosis)
    www.tloaf.org
    Stacy Pike, Director of Programs and Administration
    stacypike@tloaf.org
    18113 Dunbury Avenue
    Farmington, MN 55024-7241
    612-387-3424

Leukodystrophies

  • Chloe’s Fight Rare Disease Foundation
    (For metachromatic leukodystrophy)
    www.chloesfight.org
    Erica Barnes, Co-Founder and Chair of the Board of Directors
    ericademourebarnes@gmail.com
    343 Sweet Briar Lane
    Hopkins, MN 55343
    952-457-6956
  • United Leukodystrophy Foundation
    ulf.org
    Bobbi Burgstone, Executive Director
    bobbi@ulf.org
    224 North Second Street, Suite 2
    DeKalb, IL  60115
    800-728-5483 or  (815) 748-3211
    Fax: (815) 748-0844

Mucolipidosis I (Sialidosis)

  • International Society for Mannosidosis and Related Diseases
    www.ismrd.org
    Jenny Noble, Vice President & Administrator
    jenny.noble@xtra.co.nz
    167 Hollister Lane,
    Ohauiti, Tauranga, New Zealand
    Phone: 64 7 5448868

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

  • International Society for Mannosidosis and Related Diseases
    www.ismrd.org
    Jenny Noble, Vice President & Administrator
    jenny.noble@xtra.co.nz
    167 Hollister Lane,
    Ohauiti, Tauranga, New Zealand
    Phone: 64 7 5448868

Mucolipidosis IV

  • Mucolipidosis IV Foundation
    www.ml4.org

    Rebecca Oberman, Ph.D., Executive Director
    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
    Kimberly D. Angel, Executive Director
    kimangel@mpssociety.ca
    #218-2055 Commercial Drive
    Vancouver, BC V5N 0C7
    Canada
    1-800-667-1846 or 604-924-5130
  • Sanfilippo Foundation for Children
    sf4k.org
    Roy Zeighami, Executive Director/Founder
    contact@sf4k.org
    6420 Diamond Dr
    Mckinney, TX 75070

Multiple Sulfatase Deficiency

Neuronal Ceroid Lipofuscinosis (Batten disease)

  • Batten Disease Support and Research Association
    www.bdsra.org
    Margie Frazier, Executive Director
    mfrazier@bdsra.org
    1175 Dublin Road
    Columbus, OH 43215
    800-448-4570

Niemann-Pick Disease

  • The Ara Parseghian Medical Research Foundation
    parseghianfund.nd.edu
    Sean Kassen, PhD, Director
    skassen@nd.edu
    Ara Parseghian Medical Research Fund
    University of Notre Dame
    Office of the Dean
    215 Jordan Hall of Science
    Notre Dame, IN 46556-4618
    574-631-4689
  • Hide and Seek Foundation for Lysosomal Disease Research
    (For Niemann-Pick disease type C)
    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
    Chris Klauer, Interim Manager
    PO Box 49
    Fort Atkinson, WI 53538
    nnpdf@nnpdf.org
    920-563-0930
    920-563-0931

Pompe Disease

Schindler disease

  • International Society for Mannosidosis and Related Diseases
    www.ismrd.org
    Jenny Noble, Vice President & Administrator
    jenny.noble@xtra.co.nz
    167 Hollister Lane,
    Ohauiti, Tauranga, New Zealand
    Phone: 64 7 5448868

Wolman Disease