Clincosm LogoSign in Get a demo

Diagnostic and Screening Study of Genetic Disorders

Sponsor
National Center for Research Resources (NCRR) (NIH)
Overall Status
Completed
CT.gov ID
NCT00006057
Collaborator
Icahn School of Medicine at Mount Sinai (Other)
50
Enrollment
1
Location

Study Details

Study Description

Brief Summary

OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history.

  1. Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation, enzyme manipulation, enzyme replacement, enzyme transplantation, and gene transfer techniques in these patients.

  2. Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical, and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    PROTOCOL OUTLINE:

    Patients are evaluated annually or biannually, depending on disease status and progression. Patients undergo a complete medical history, an extensive family pedigree, and a physical examination. Patients undergo general laboratory, imaging, physiologic, and clinical laboratory studies according to their disease type. Patients undergo specialized laboratory studies including plasma and leukocyte enzyme assays, quantitative urinary mucopolysaccharides and oligosaccharides, urine and plasma glycolipids, plasma and urine amino acids, urine organic acids, lymphoblastoid culture, DNA isolation from peripheral leukocytes, skin biopsy for fibroblast culture (if indicated), and medical photography. Patients also receive consultations with various specialties including ophthalmology, ENT, cardiology, pulmonary, gastroenterology/nutrition, hematology, neurology, orthopedics, rehabilitation medicine/physical therapy, and dermatology.

    Study Design

    Study Type:
    Observational
    Study Start Date :
    Dec 1, 1999

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      0 Years and Older
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      No
      • Suspected diagnosis (homozygous or heterozygous) of a genetic disorder including, but not limited to, one of the following: Tay-Sachs disease (adult form) Congenital erythropoietic porphyria Galactosemia Mitochondrial myopathy Globoid cell leukodystrophy (Krabbe disease) Methylmalonic acidemia Isovaleric acidemia Morquio type A Glycogen storage disease type 1AB Ornithine aminotransferase deficiency Ceroid lipofuscinosis Glutaric aciduria type 1 Citrullinemia Other malformation syndromes, lysosomal storage disorders, or peroxisomal disorders

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 Mount Sinai School of Medicine New York New York United States 10029

      Sponsors and Collaborators

      • National Center for Research Resources (NCRR)
      • Icahn School of Medicine at Mount Sinai

      Investigators

      • Study Chair: Judith P. Willner, Icahn School of Medicine at Mount Sinai

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      None provided.
      Responsible Party:
      , ,
      ClinicalTrials.gov Identifier:
      NCT00006057
      Other Study ID Numbers:
      • 199/15151
      • MTS-GCO-88-459
      First Posted:
      Jul 6, 2000
      Last Update Posted:
      Jun 24, 2005
      Last Verified:
      Apr 1, 2002
      Additional relevant MeSH terms:
      Tay-Sachs Disease
      Leukodystrophy, Globoid Cell
      Porphyria, Erythropoietic
      Metabolism, Inborn Errors
      Porphyrias

      Study Results

      No Results Posted as of Jun 24, 2005