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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: Completed study, sponsored by National Human Genome Research Institute (NHGRI).
NCT00001404 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 1,170 participants. According to ClinicalTrials.gov, the official US trial registry.
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 |
What the finished NCT00001404 record still lists
NCT00001404 is an observational study that tracks outcomes without assigning an intervention. Its 1,170 participants enrollment target places it among the larger protocols in the corpus.
The record links to 0 conditions, and to 0 interventions.
NCT00001404 does not publish any study locations in the registry export this page uses.
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.
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