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Completed No phase listed Observational

Diagnostic and Screening Study of Genetic Disorders

ClinicalTrials.gov ID: NCT00006057

Public ClinicalTrials.gov record NCT00006057. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Sep 8, 2026, 6:55 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID
NCT00006057
Recruitment status
Completed
Study type
Observational
Phase
Not listed
Enrollment
50 participants

Conditions and interventions

Eligibility (public fields only)

Age range
0 Years and older
Sex
All
Healthy volunteers
Healthy volunteers not accepted

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Nov 30, 1999
Primary completion
Not listed
Completion
Not listed
Last update posted
Jun 23, 2005

Started 1999

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
Mount Sinai School of Medicine New York New York 10029

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT00006057, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Jun 23, 2005 · Synced Sep 8, 2026

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Open the official record

The complete protocol, eligibility criteria, and contact information for NCT00006057 live on ClinicalTrials.gov.

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