Recruiting

Genetic Analysis

Sponsor:

UConn Health

Code:

NCT01630460

Conditions

Craniometaphyseal Dysplasia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Craniometaphyseal Dysplasia

Study ID

NCT01630460

Start date

Apr, 2009

Status verified date

Apr, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Identification of genetic elements [ Time Frame: at time of identification ]

Central Contacts and Locations

Central contacts

Ernst J Reichenberger, PhD

860-679-2062reichenberger@uchc.edu

Locations

University of Connecticut Health Center

Recruiting

Farmington, Connecticut, United States, 06030

Contacts

Ernst J Reichenberger, PhD

860-679-2062reichenberger@uchc.edu

More Information

Sponsor

UConn Health

Last update posted

Apr 17, 2026

Last verified

Apr, 2026

Keywords

  • Craniometaphyseal dysplasia
  • bone
  • hyperostosis
  • osteoblast
  • osteoclast

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by UConn Health on 2026-04-17.