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NCT01630460 · ClinicalTrials.gov registry record
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
A clinical trial of Craniometaphyseal Dysplasia, sponsored by UConn Health.
- Recruiting
- Registry status
- 600
- Enrollment target
- 1
- Study location
NCT01630460: Recruiting study of Craniometaphyseal Dysplasia, sponsored by UConn Health.
NCT01630460 is a study of Craniometaphyseal Dysplasia that is actively recruiting participants, run by UConn Health. The registered enrollment target is 600 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT01630460, a study of Craniometaphyseal Dysplasia, is actively recruiting participants, sponsored by UConn Health.
- RECRUITING
- Registry status
- 600 participants
- Enrollment target
- 1
- Study location
Study Summary
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find mechanisms to slow down bone deposition in CMD patients.
Primary Outcome
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Conditions Studied
Study Locations (1)
Connecticut
- University of Connecticut Health Center - Farmington
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 600 participants |
| Start Date | 2009-04 |
| Est. Completion | 2025-12 |
What NCT01630460 shows while recruiting
NCT01630460 is an observational study that tracks outcomes without assigning an intervention. The registered 600 participants enrollment target is mid-sized for trials with a published cap.
The record links to 1 condition, with Craniometaphyseal Dysplasia appearing as the primary indexed condition, and to 0 interventions.
NCT01630460 reports a single indexed study location in Connecticut.
Frequently Asked Questions
What is clinical trial NCT01630460 about?
NCT01630460 is a clinical study titled "Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)". CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to...
What is the current status of trial NCT01630460?
This trial is currently recruiting. The enrollment target is 600 participants. The study started on 2009-04. Estimated completion is 2025-12.
What conditions does trial NCT01630460 study?
This clinical trial studies the following conditions: Craniometaphyseal Dysplasia.
Who is sponsoring clinical trial NCT01630460?
This trial is sponsored by UConn Health, which has 178 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT01630460 being conducted?
This trial has 1 study location across Connecticut. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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