Diagnostic and Screening Study of Genetic Disorders

This study has been completed.
Sponsor:
Collaborator:
Mount Sinai School of Medicine
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00006057
First received: July 5, 2000
Last updated: June 23, 2005
Last verified: April 2002

July 5, 2000
June 23, 2005
December 1999
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Complete list of historical versions of study NCT00006057 on ClinicalTrials.gov Archive Site
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Diagnostic and Screening Study of Genetic Disorders
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OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history.

II. 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.

III. 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.

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.

Observational
Primary Purpose: Screening
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  • Tay-Sachs Disease
  • Porphyria, Erythropoietic
  • Leukodystrophy, Globoid Cell
  • Metabolism, Inborn Errors
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
50
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  • 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
Both
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No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00006057
199/15151, MTS-GCO-88-459
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National Center for Research Resources (NCRR)
Mount Sinai School of Medicine
Study Chair: Judith P. Willner Mount Sinai School of Medicine
National Center for Research Resources (NCRR)
April 2002

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP