Diagnostic and Screening Study of Genetic Disorders

Completed

Conditions studied: Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors

In brief

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.

Key facts

Study ID

NCT00006057

Run by

National Center for Research Resources (NCRR)

People needed

50

Starts

1999-12-01

Last updated by the study team

2005-06-24

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

Where it is running

• Mount Sinai School of Medicine — New York, New York, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.