Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01630460

Acronym

CMD

Enrollment

600

Registered

2012-06-28

Start date

2009-04-01

Completion date

2030-12-01

Last updated

2026-04-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Craniometaphyseal Dysplasia

Keywords

Craniometaphyseal dysplasia, bone, hyperostosis, osteoblast, osteoclast

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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Identification of genetic elements	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.

Countries

United States

Contacts

CONTACTErnst J Reichenberger, PhD

reichenberger@uchc.edu860-679-2062

PRINCIPAL_INVESTIGATORErnst J Reichenberger, PhD

UConn Health

Outcome results