Genetic analysis of Craniometaphyseal Dysplasia
Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
This study is trying to find out the genetic reasons behind Craniometaphyseal Dysplasia by looking at blood and tissue samples from patients and their family members to help slow down the extra bone growth it causes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | UConn Health Academic / other |
| Locations | 1 site (Farmington, Connecticut) |
| Trial ID | NCT01630460 on ClinicalTrials.gov |
What this trial studies
This study aims to identify the genetic causes of Craniometaphyseal Dysplasia (CMD), a rare bone disorder characterized by excessive bone deposition in the cranial and long bones. Researchers will analyze blood and tissue samples from affected patients to understand the underlying mechanisms of the disorder. The long-term goal is to discover ways to slow down the abnormal bone growth associated with CMD. The study will include both affected individuals and unaffected family members for comparison.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Craniometaphyseal Dysplasia and unaffected family members participating in the study.
Not a fit: Patients without Craniometaphyseal Dysplasia or those not related to affected individuals may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of Craniometaphyseal Dysplasia, potentially slowing disease progression.
How similar studies have performed: While CMD is a rare condition, genetic studies of similar bone disorders have shown promise in identifying underlying causes and potential treatments.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Farmington, Connecticut
- University of Connecticut Health Center — Farmington, Connecticut, United States (Recruiting)
Study contacts
- Principal investigator: Ernst J Reichenberger, PhD — UConn Health
- Study coordinator: Ernst J Reichenberger, PhD
- Email: reichenberger@uchc.edu
- Phone: 860-679-2062
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.