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NCT00006334 · ClinicalTrials.gov registry record
Turner Syndrome: Genotype and Phenotype
A clinical trial, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- Completed
- Registry status
- 1,017
- Enrollment target
NCT00006334 is a clinical trial that has completed, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The registered enrollment target is 1,017 participants.
The verdict
NCT00006334 has completed, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- COMPLETED
- Registry status
- 1,017 participants
- Enrollment target
Study Summary
This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes that determine our hereditary makeup. One pair of chromosomes is the sex chromosomes, designated X and Y. Females usually have two X chromosomes; however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X or Y chromosome. This abnormality can cause medical problems such as short stature, premature ovarian failure and heart or kidney defects. Individuals with Turner syndrome have an increased risk of thyroid disorders, high blood pressure, diabetes mellitus, abnormal liver function, hearing loss and osteoporosis. This study will try to identify the genes responsible for the specific medical problems associated with the disorder. Females 10 years of age and older with X chromosome defects may be eligible for this 3- to 5- day inpatient study at the National Institutes of Health Clinical Center in Bethesda, Maryland. Participants will have a physical examination, body measurements (height, weight, hip and waist) and blood drawn for clinical and research purposes. Participants will have a comprehensive cardiovascular evaluation, including an electrocardiogram (ECG), 24 hour blood pressure monitoring, magnetic resonance imaging (MRI) of the heart and aorta, ultrasound imaging of the heart (cardiac echo) and expert consultation with the NIH Cardiology Service. Women 35 years of age and older may have a computerized tomography (CT) scan of the coronary arteries to investigate possible blockage of the heart blood supply. Risk for diabetes is investigated by studies of the body fat content and an oral glucose tolerance test. The risk for coronary artery disease is assessed by measurement of cholesterol and other known risk factors in the blood. Thyroid function and presence of antibodies to the thyroi
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 1,017 participants |
| Start Date | 2000-09-26 |
| Est. Completion | 2014-07-08 |
Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)305 total trials
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00006334
The ClinicalTrials.gov registry entry for NCT00006334 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 1,017 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00006334 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00006334 about?
NCT00006334 is a clinical study titled "Turner Syndrome: Genotype and Phenotype". This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes that determine our hereditary makeup. One pair of chromosomes is the s...
What is the current status of trial NCT00006334?
This trial is currently completed. The enrollment target is 1,017 participants. The study started on 2000-09-26. Estimated completion is 2014-07-08.
Who is sponsoring clinical trial NCT00006334?
This trial is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total clinical trials registered on ClinicalTrials.gov.
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