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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

Tracking Information
First Submitted Date June 25, 2012
First Posted Date June 28, 2012
Last Update Posted Date December 14, 2020
Study Start Date April 2009
Estimated Primary Completion Date December 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 11, 2013)
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.
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
Official Title Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
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.
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Saliva, blood, bone tissue
Sampling Method Non-Probability Sample
Study Population Individuals with diagnosed CMD
Condition Craniometaphyseal Dysplasia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 27, 2012)
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2025
Estimated Primary Completion Date December 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Ernst J Reichenberger, PhD 860-679-2062
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01630460
Other Study ID Numbers UCHC03-008CMD
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Ernst Reichenberger, UConn Health
Study Sponsor UConn Health
Collaborators Not Provided
Principal Investigator: Ernst J Reichenberger, PhD UConn Health
PRS Account UConn Health
Verification Date December 2020