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NCT00004351 · ClinicalTrials.gov registry record
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
A clinical trial, sponsored by National Institute of Neurological Disorders and Stroke (NINDS).
- Completed
- Registry status
- 20
- Enrollment target
NCT00004351 is a clinical trial that has completed, run by National Institute of Neurological Disorders and Stroke (NINDS). The registered enrollment target is 20 participants.
The verdict
NCT00004351 has completed, sponsored by National Institute of Neurological Disorders and Stroke (NINDS).
- COMPLETED
- Registry status
- 20 participants
- Enrollment target
Study Summary
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 20 participants |
| Start Date | 1999-09 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00004351
The ClinicalTrials.gov registry entry for NCT00004351 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 20 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Institute of Neurological Disorders and Stroke (NINDS), which has 567 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00004351 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00004351 about?
NCT00004351 is a clinical study titled "Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes". OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molec...
What is the current status of trial NCT00004351?
This trial is currently completed. The enrollment target is 20 participants. The study started on 1999-09.
Who is sponsoring clinical trial NCT00004351?
This trial is sponsored by National Institute of Neurological Disorders and Stroke (NINDS), which has 567 total clinical trials registered on ClinicalTrials.gov.
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