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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) (CMD)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by UConn Health
Information provided by (Responsible Party):
Ernst Reichenberger, University of Connecticut Health Center Identifier:
First received: June 25, 2012
Last updated: September 8, 2016
Last verified: September 2016
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.

Craniometaphyseal Dysplasia

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Resource links provided by NLM:

Further study details as provided by UConn Health:

Primary Outcome Measures:
  • Identification of genetic elements [ Time Frame: at time of identification ] [ Designated as safety issue: No ]
    The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.

Biospecimen Retention:   Samples With DNA
Saliva, blood, bone tissue

Estimated Enrollment: 600
Study Start Date: April 2009
Estimated Study Completion Date: December 2025
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with diagnosed CMD

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01630460

Contact: Ernst J Reichenberger, PhD 860-679-2062

United States, Connecticut
University of Connecticut Health Center Recruiting
Farmington, Connecticut, United States, 06030
Contact: Ernst J Reichenberger, PhD    860-679-2062   
Sponsors and Collaborators
UConn Health
Principal Investigator: Ernst J Reichenberger, PhD UConn Health
  More Information

Additional Information:

Responsible Party: Ernst Reichenberger, Assoc. Prof., University of Connecticut Health Center Identifier: NCT01630460     History of Changes
Other Study ID Numbers: UCHC03-008CMD 
Study First Received: June 25, 2012
Last Updated: September 8, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by UConn Health:
Craniometaphyseal dysplasia

Additional relevant MeSH terms:
Craniofacial Dysostosis
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities processed this record on October 25, 2016