Hunt for genes behind rare bone disease could unlock future treatments
NCT ID NCT01630460
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aims to find the genes and genetic changes that cause craniometaphyseal dysplasia (CMD), a rare disorder that leads to abnormal bone growth in the skull and other bones. Researchers will analyze blood and tissue samples from 600 people, including affected individuals and their family members. The long-term goal is to understand the disease process and eventually find ways to slow down bone buildup.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this study could point toward future treatments that slow abnormal bone growth in people with craniometaphyseal dysplasia.
- What could go wrong
- This is an observational genetic study, not a treatment trial. It may not directly lead to a therapy, and any future treatments would require many more years of research.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for CRANIOMETAPHYSEAL DYSPLASIA are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
University of Connecticut Health Center
RECRUITINGFarmington, Connecticut, 06030, United States