Can an eczema drug calm a rare genetic skin disease?
NCT ID NCT04244006
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.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Phase 2/3
Runs two stages together: whether the treatment works, then large-scale confirmation.
- Participants
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10 people
The number who actually took part.
- Started
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Jul 2020
- Finished
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Nov 2022
- Lead sponsor
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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
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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
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Dermatology
Toulouse, France
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Other studies related to the condition(s) this trial covers.
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