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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
NCT01630460 · View on ClinicalTrials.gov ↗
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.
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 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT01630460
The ClinicalTrials.gov registry entry for NCT01630460 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 600 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is UConn Health, which has 176 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Craniometaphyseal Dysplasia appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT01630460 reports 1 study location spanning 1 distinct geographic area — top geographies include Connecticut. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
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. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT01630460?
This trial is sponsored by UConn Health, which has 176 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
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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