NCT01630460 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
| NCT ID | NCT01630460 |
| Status | Recruiting |
| Phase | — |
| Sponsor | UConn Health |
| Condition | Craniometaphyseal Dysplasia |
| Study Type | OBSERVATIONAL |
| Enrollment | 600 participants |
| Start Date | 2009-04 |
| Primary Completion | 2030-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 600 participants in total. It began in 2009-04 with a primary completion date of 2030-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility Criteria
Inclusion Criteria: * CMD; unaffected individuals only if part of a participating CMD family Exclusion Criteria: * No CMD; unaffected individuals only as part of a participating CMD family
Contact & Investigator
Ernst J Reichenberger, PhD
PRINCIPAL INVESTIGATOR
UConn Health
Frequently Asked Questions
Who can join the NCT01630460 clinical trial?
This trial is open to participants of all sexes, studying Craniometaphyseal Dysplasia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01630460 currently recruiting?
Yes, NCT01630460 is actively recruiting participants. Contact the research team at reichenberger@uchc.edu for enrollment information.
Where is the NCT01630460 trial being conducted?
This trial is being conducted at Farmington, United States.
Who is sponsoring the NCT01630460 clinical trial?
NCT01630460 is sponsored by UConn Health. The principal investigator is Ernst J Reichenberger, PhD at UConn Health. The trial plans to enroll 600 participants.