Genes Mutation Pentalogy of Cantrell
Public ClinicalTrials.gov record NCT00477932. 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
Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes. Mutations in non-muscle genes have been shown to result in human defects involving blood platelets, kidney, hearing and sight. The major objective of this protocol is to study a variety of blood, tissue and urine samples by looking at protein, DNA, and RNA in those collected samples.
Study identification
- NCT ID
- NCT00477932
- Recruitment status
- Withdrawn
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- Not listed
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 2 Years and older
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Feb 28, 2006
- Primary completion
- Dec 31, 2011
- Completion
- Dec 31, 2011
- Last update posted
- Dec 16, 2014
2006 – 2012
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Children's Healthcare of Atlanta | Atlanta | Georgia | 30329 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00477932, 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 16, 2014 · Synced Sep 10, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00477932 live on ClinicalTrials.gov.