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Diagnostic and Screening Study of Genetic Disorders

NCT00006057 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2005-06-24

No results posted yet for this study

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.

Conditions

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

Sponsors & Collaborators

Principal Investigators

  • Judith P. Willner · Icahn School of Medicine at Mount Sinai

Eligibility

Min Age
0 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1999-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00006057 on ClinicalTrials.gov