Skip to main content
OpenTrials
Recruiting

NCT Number: NCT01630460

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 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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Craniometaphyseal Dysplasia Bone Diseases Hyperostosis Musculoskeletal Diseases Schwartz-Lelek syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Connecticut Health Center

Farmington, Connecticut, 06030, United States

Location status: Recruiting

Location contact

Ernst J Reichenberger, PhD

CONTACT

[email protected]

860-679-2062

About this study

CMD is a very rare bone disorder that affects mostly bones of the head (=cranial bones) but also long (=tubular) bones. Therefore, CMD has been added to the class of craniotubular bone disorders. There are a number of disorders in this group and sometimes they are difficult to distinguish. Typical signs for CMD are the lifelong bone deposition in bones of the face and head (=progressive craniofacial hyperostosis) and the widening of the ends of long bones (=metaphyseal flaring). Typical facial characteristics are wide-set eyes and a prominent jaw (=mandible). CMD is sometimes diagnosed in infants. The best way to confirm diagnosis is by molecular genetics.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Identification of genetic elements

    Time frame: at time of identification

    The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.

Study contacts

Contact information is provided by the study sponsor or research team.

Ernst J Reichenberger, PhD

CONTACT

[email protected]

860-679-2062

Sponsors and collaborators

Lead sponsor

UConn Health

Other

Registry information

Official study title

Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Acronym: CMD

Important dates

Study start
2009
Primary completion
2030
Study completion
2030
First posted
Jun 28, 2012
Registry last updated
Apr 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.