Can an eczema drug calm a rare genetic skin disease?

NCT ID NCT04244006

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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
The trial has finished. Results may not be published yet.
Stopped early This study
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This status has not been confirmed recently, so it may be out of date.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 Sep 21, 2026 · Last updated Sep 21, 2026

Summary

Netherton syndrome is a rare genetic disorder that causes red, scaly, inflamed skin and intense itching. No targeted treatments exist, so researchers are testing dupilumab, an injectable drug already used for eczema, against a placebo in 10 adults with moderate to severe Netherton syndrome. Over 16 weeks, they will measure changes in disease severity, itching, pain, skin infections, and the need for steroid creams. The goal is to see whether dupilumab improves skin condition and quality of life for these patients.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
dupilumab, an injectable drug that targets inflammation
What this could lead to
If dupilumab helps, it could become the first targeted treatment for the skin inflammation and itching of Netherton syndrome, improving daily life for people with this rare condition.
What could go wrong
This is a small pilot study with only 10 participants, so results may not apply to everyone. Dupilumab can cause eye irritation, injection-site reactions, and possibly other side effects, and it may not work for this genetic disorder.

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

Phase 2/3

Runs two stages together: whether the treatment works, then large-scale confirmation.

Participants

10 people

The number who actually took part.

Started

Jul 2020

Finished

Nov 2022

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.

Ages

18 years and older

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: * Adult patients affiliated to a social insurance protection regimen. * Clinical diagnosis of NS (7) (trichorrhexis invaginata, extensive scaling, skin inflammation, allergic manifestations) and absent or marked reduction of LEKTI staining. * Moderate to severe forms: NASA (Netherton Area Severity Assessment score) score ≥ 5/12 at inclusion. * Patients able to understand the study procedures including the ability to complete patient-based self-assessment questionnaires. * Patients who agree to sign the written informed consent. Exclusion Criteria: * Hypersensitivity to dupilumab or its excipients. * Modification of the usual treatment (emollients and topical corticosteroids used on a regular basis) within 2 weeks before inclusion. * Treatment with topical calcineurin inhibitors 1 week before inclusion. * Treatment with oral immunosuppressant (including cyclosporine, methotrexate, azathioprine, mycophenolate mofetil), oral retinoids (acitretin, alitretinoin, isotretinoin) or phototherapy within 4 weeks before inclusion. * Treatment with immunomodulating biologics (Tumor Necrosis Factor (TNF) inhibitor) 16 weeks before inclusion. * Treatment with another investigational drug within 8 weeks before inclusion. * Treatment with a systemic antibiotic within 2 weeks before inclusion. * Active skin infection requiring the use of a systemic therapy within 2 weeks before the inclusion. * Any other condition that according to the investigator will impair the ability to evaluate treatment effect. * Known or suspected history of immunosuppression, including history of invasive opportunistic infections (e.g., tuberculosis, histoplasmosis, listeriosis, coccidioidomycosis, pneumocystis, aspergillosis). * Current infections including infection with helminthes. * Pregnant or breastfeeding women, or women planning to become pregnant or breastfeed during the study. Women of childbearing age, potentially sexually active, and unwilling to use adequate birth control methods. * Mental or physical incapacity to fill in the questionnaires.

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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

Locations

  • Dermatologie Necker

    Paris, 75015, France

  • Dermatology

    Toulouse, France

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