Diagnostic and Screening Study of Genetic Disorders

Metabolism, Inborn Errors Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00006057
• Other study ID #: 199/15151
• Secondary ID: MTS-GCO-88-459
• Status: Completed
• Phase: N/A
• First received: July 5, 2000
• Last updated: June 23, 2005
• Start date: December 1999

Study information

• Verified date: April 2002
• Source: National Center for Research Resources (NCRR)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 50
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

• 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

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

• Leukodystrophy, Globoid Cell
• Metabolism, Inborn Errors
• Porphyria, Erythropoietic
• Porphyrias
• Tay-Sachs Disease

Locations

Country	Name	City	State
United States	Mount Sinai School of Medicine	New York	New York

Sponsors (2)

Lead Sponsor	Collaborator
National Center for Research Resources (NCRR)	Icahn School of Medicine at Mount Sinai

Country where clinical trial is conducted

United States,