Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
NCT00001404 · ClinicalTrials.gov registry record
Phenotype and Etiology of Pallister-Hall Syndrome
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 1,170
- Enrollment target
NCT00001404 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 1,170 participants.
The verdict
NCT00001404 has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 1,170 participants
- Enrollment target
Study Summary
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 1,170 participants |
| Start Date | 1994-08-18 |
| Est. Completion | 2016-01-07 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001404
The ClinicalTrials.gov registry entry for NCT00001404 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 1,170 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 0 conditions, and to 0 interventions.
NCT00001404 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00001404 about?
NCT00001404 is a clinical study titled "Phenotype and Etiology of Pallister-Hall Syndrome". We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping ...
What is the current status of trial NCT00001404?
This trial is currently completed. The enrollment target is 1,170 participants. The study started on 1994-08-18. Estimated completion is 2016-01-07.
Who is sponsoring clinical trial NCT00001404?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Learn More About Clinical Trials
Explore more on PlainTrial
Read our methodology - how this data is sourced, computed, and verified.
Related
Every figure on PlainTrial is rendered directly from the ClinicalTrials.gov registry, no number is typed in by an editor. This page mirrors this trial's own ClinicalTrials.gov registry record, live from the dataset. See our editorial standards & corrections policy, the methodology behind these numbers, or report a data error.