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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

NCT01630460 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2026-04-17

No results posted yet for this 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

  • Craniometaphyseal Dysplasia

Sponsors & Collaborators

  • UConn Health

    lead OTHER

Principal Investigators

  • Ernst J Reichenberger, PhD · UConn Health

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-04-30
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01630460 on ClinicalTrials.gov