Genetic sleuths hunt for hidden causes of rare skin disorder
NCT ID NCT02862834
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study used advanced genetic sequencing to find new genes responsible for syndromic poikiloderma, a rare condition affecting skin and other organs. Researchers analyzed DNA from 39 patients to improve diagnosis, genetic counseling, and tumor risk monitoring. The goal is to help families get clearer answers and better follow-up care.
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 could lead to better genetic tests and counseling for families with syndromic poikiloderma, and help doctors monitor patients for tumor risks.
- What could go wrong
- This is a small, observational study that aims to understand the genetics of a rare condition. It may not directly lead to new treatments or benefit all patients.
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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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Locations
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CHU Dijon Bourgogne
Dijon, 21079, France