Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
ConditionCraniometaphyseal Dysplasia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUConn Health
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
CMD; unaffected individuals only if part of a participating CMD family
Disqualifiers
No CMD; unaffected individuals only as part of a participating CMD family
Trial population
Individuals with diagnosed CMD
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Identification of genetic elements
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Time frame
at time of identificationSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov