Cure My Disease

Don't miss your cure!

 Log in / Sign up

Genetic sleuths hunt for hidden causes of rare skin disorder

NCT ID NCT02862834

Knowledge-focused Sponsor: Centre Hospitalier Universitaire Dijon Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

39 people

The number who actually took part.

Start date

May 2013

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

patients with poikiloderma

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: patients with syndromic poikiloderma, defined by the association of poikiloderma with other extradermatological clinical signs, * normal array-CGH, screening for chromosomal rearrangements, * absence of mutations in the genes RECQL4, KIND1 or C16orf57, * sporadic or familial involvement. Exclusion Criteria: * None

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Poikiloderma are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

hereditary poikiloderma

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Poikiloderma

Contacts and locations

Locations

  • CHU Dijon Bourgogne

    Dijon, 21079, France