Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) (CMD)
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ClinicalTrials.gov Identifier: NCT01630460 |
Recruitment Status :
Recruiting
First Posted : June 28, 2012
Last Update Posted : December 14, 2020
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Condition or disease |
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Craniometaphyseal Dysplasia |
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 |

- 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

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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 |
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

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 ClinicalTrials.gov identifier (NCT number): NCT01630460
Contact: Ernst J Reichenberger, PhD | 860-679-2062 | reichenberger@uchc.edu |
United States, Connecticut | |
University of Connecticut Health Center | Recruiting |
Farmington, Connecticut, United States, 06030 | |
Contact: Ernst J Reichenberger, PhD 860-679-2062 reichenberger@uchc.edu |
Principal Investigator: | Ernst J Reichenberger, PhD | UConn Health |
Publications of Results:
Responsible Party: | Ernst Reichenberger, Assoc. Prof., UConn Health |
ClinicalTrials.gov 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 |
Craniometaphyseal dysplasia bone hyperostosis osteoblast osteoclast |
Hypertelorism Hyperostosis Hyperplasia Pathologic Processes Craniofacial Dysostosis Dysostoses |
Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases Craniofacial Abnormalities Musculoskeletal Abnormalities Congenital Abnormalities |