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Rare skin disease mystery unraveled: new study maps netherton Syndrome's inner workings

NCT ID NCT02081313

Knowledge-focused Sponsor: Institut National de la Santé Et de la Recherche Médicale, France 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked at Netherton syndrome, a rare genetic skin condition, to better understand how it affects the body and immune system. Researchers studied 18 people with the disease, measuring immune markers in the blood and tracking skin changes. The goal was to find new targets for future treatments, not to test a therapy itself.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

18 people

The number who actually took part.

Started

Oct 2014

Finished

Sep 2016

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

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

Ages

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

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: * Adult or child (no age limit) * Confirmed diagnosis of Netherton syndrome * Signed informed consent form for the patient or his legal representative Exclusion Criteria: * Bleeding disorder precluding skin biopsy

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Conditions

The condition(s) this trial relates to.

Netherton syndrome

As listed by the trial registrant

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

Healthy Netherton syndrome

Contacts and locations

Locations

  • Imagine Institute for genetic diseases

    Paris, 75015, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.