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NCT00032877 · ClinicalTrials.gov registry record
Genetic Analysis of Fraser Syndrome and Fryns Syndrome
A clinical trial of Fraser Syndrome and Fryns Syndrome, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 400
- Enrollment target
- 1
- Study location
NCT00032877 is a study of Fraser Syndrome and Fryns Syndrome that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 400 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00032877, a study of Fraser Syndrome and Fryns Syndrome, has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 400 participants
- Enrollment target
- 1
- Study location
Study Summary
This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling. Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study. Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.
Conditions Studied
Study Locations (1)
Maryland
- National Human Genome Research Institute (NHGRI) - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 400 participants |
| Start Date | 2002-04 |
| Est. Completion | 2003-02 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00032877
The ClinicalTrials.gov registry entry for NCT00032877 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 400 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 4 conditions, with Fraser Syndrome appearing as the primary indexed condition, and to 0 interventions.
NCT00032877 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT00032877 about?
NCT00032877 is a clinical study titled "Genetic Analysis of Fraser Syndrome and Fryns Syndrome". This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syn...
What is the current status of trial NCT00032877?
This trial is currently completed. The enrollment target is 400 participants. The study started on 2002-04. Estimated completion is 2003-02.
What conditions does trial NCT00032877 study?
This clinical trial studies the following conditions: Fraser Syndrome, Fryns Syndrome, Chromosomal Abnormalities, Abnormalities, Multiple.
Who is sponsoring clinical trial NCT00032877?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00032877 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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