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.
Disclaimer
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the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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University of Connecticut Health Center
RECRUITINGFarmington, Connecticut, 06030, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••