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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01630460
Recruitment Status : Recruiting
First Posted : June 28, 2012
Last Update Posted : December 14, 2020
Information provided by (Responsible Party):
Ernst Reichenberger, UConn Health

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.

Condition or disease
Craniometaphyseal Dysplasia

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.

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Study Type : Observational
Estimated Enrollment : 600 participants
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
Study Start Date : April 2009
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Primary Outcome Measures :
  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.

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01630460

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

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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
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Principal Investigator: Ernst J Reichenberger, PhD UConn Health
Additional Information:
Publications of Results:

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Responsible Party: Ernst Reichenberger, Assoc. Prof., UConn Health Identifier: NCT01630460    
Other Study ID Numbers: UCHC03-008CMD
First Posted: June 28, 2012    Key Record Dates
Last Update Posted: December 14, 2020
Last Verified: December 2020
Keywords provided by Ernst Reichenberger, UConn Health:
Craniometaphyseal dysplasia
Additional relevant MeSH terms:
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Pathologic Processes
Craniofacial Dysostosis
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities