Phenotype and Etiology of Pallister-Hall Syndrome
Public ClinicalTrials.gov record NCT00001404. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Genetic and Clinical Studies of Congenital Anomaly Syndromes
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT00001404
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 1,170 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Aug 17, 1994
- Primary completion
- Not listed
- Completion
- Jan 6, 2016
- Last update posted
- Dec 15, 2019
1994 – 2016
United States locations
- U.S. sites
- 3
- U.S. states
- 3
- U.S. cities
- 3
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Cedars Sinai Medical Center | Los Angeles | California | 90048-1804 | — |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
| Greenwood Genetics Center | Greenwood | South Carolina | 29646 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
Non-U.S. locations
This page focuses on the U.S. directory. The official record also lists 1 non-U.S. site.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00001404, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Dec 15, 2019 · Synced Sep 13, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00001404 live on ClinicalTrials.gov.