Netherton SyndromePhase 2/3NS-DUPINCT04244006
A Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome
A Phase 2/3 study testing Dupilumab Prefilled Syringe in people with Netherton Syndrome, run by University Hospital, Toulouse at 2 sites in France.
Trial summary
To date, there are no effective therapy for the management of Netherton Syndrome (NS) Patients use emollients with a limited efficacy on scaling and no efficacy on skin inflammation and pruritus. They may also use topical corticosteroids or calcineurin inhibitors in case of eczematous lesions. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Netherton Syndrome
- What is being tested?
- Dupilumab Prefilled Syringe
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 10 participants
- Where
- 2 sitesFrance
- Study dates
- 23 Jul 2020to 15 Nov 2022
- Phase
- Phase 2/3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
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- 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.
Trial locations and contacts
2 sites in 1 country.
About this study
Official title: A Randomized Double-blinded Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome
To date, there are no effective therapy for the management of Netherton Syndrome (NS) Patients use emollients with a limited efficacy on scaling and no efficacy on skin inflammation and pruritus. They may also use topical corticosteroids or calcineurin inhibitors in case of eczematous lesions. The use of therapies targeting skin inflammation has been reported in a few case reports. Their efficacy is very limited and their uses are limited because of the chronicity of the disease, the impaired skin barrier function and the risk for skin infections and skin cancers. Therefore, there is a huge medical need for novel therapies in NS.The expected consequences of this study are that a 16-week course of dupilumab will be more effective than placebo for the treatment of moderate to severe NS Dupilumab could therefore improve skin condition and quality of life.
Read the detailed description
This is a proof of concept (pilot) double-blind randomized placebo-controlled study evaluating the efficacy and safety of dupilumab for the treatment of NS. Patients will be randomized in a 2:1 ratio to receive dupilumab (2 doses of 300 mg), or placebo, at baseline and then 1 dose of dupilumab 300 mg, or placebo, every 2 weeks until week 14 (total of 8 administrations).Moderate to severe NS were selected in order to be able to measure the improvement of skin condition.
- Conditions
- Netherton Syndrome
- Being tested
- Dupilumab Prefilled Syringe, Placebo Prefilled Syringe
- Medical subject headings
- Netherton Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Dupilumab Prefilled SyringeDrug
administration of dupilumab corresponding to dupilumab arm
Placebo Prefilled SyringeOther
administration of placebo corresponding to placebo arm
| Study group | Role | What they receive |
|---|---|---|
| Dupilumab | Experimental | The patient will receive 2 doses at baseline and then 1 dose every 2 weeks (8 administrations in total) of Dupilumab 300 mg (syringe of 2 mL for subcutaneous administration). Receives: Drug: Dupilumab Prefilled Syringe |
| Placebo | Placebo comparator | The patient will receive 2 doses at baseline and then 1 dose every 2 weeks (8 administrations in total) of placebo (syringe of 2 mL for subcutaneous administration).. Receives: Other: Placebo Prefilled Syringe |
What is being measured
The primary outcome is the main question the study is designed to answer.
The severity of the disease of the Netherton Area Severity Assessment score (NASA).
NASA score
Measured: Day 0 and week 16
Secondary outcomes (9)
Clinical efficacy severity of pruritus and pain
NASA score
Measured: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
Presence of infections (adverse event)
Number of Bacterial or viral Skin infections
Measured: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
Quantity of dermocorticosteroids used between each visit will be evaluated by questioning the patient.
number of tubes multiplied by the weight of one tube
Measured: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
QOL score
QOL score
Measured: Day 0, Week 16 and 28
Skin inflammation
number of inflammation markers on biopsies
Measured: Day 0 and week 16
Protease activity
number of protease markers on biopsies
Measured: Day 0 and week 16
Microbiome qualitative and quantitative analysis
number and form of bacteria
Measured: Day 0 and week 16
Transepidermal water loss (TEWL)
Measured by a Tewameter applied on a standardized area in the anterior aspect of the forearm,
Measured: Day 0 and Week 16
Safety of dupilumab
Blood tests performed every month until Week 16 (liver and renal tests, total blood count)
Measured: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2020
- Study start23 Jul 2020
- Primary completion1 Jun 2022
- Study completion15 Nov 2022
Why it stopped: no more patients corresponding to the criteriae
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Netherton SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- one arm with dupilumab (2/3 of patients) and one arm with placebo (1/3 of patients)
- Masking
- Triple blind
- Who is masked
- Participant, Care provider, Investigator
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Collaborators
- MedSharing
- Responsible party
- Sponsor
- Investigators
- Juliette MAZEREEUW-HAUTIER, Principal investigator, Toulouse Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04244006
- Sponsor's protocol ID
- RC31/19/0045
- Acronym
- NS-DUPI
- Status last verified
- Sep 2026
- First submitted
- 13 Jan 2020
- Last updated
- 21 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized Double-blinded Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome
- ClinicalTrials.gov ID
- NCT04244006
- Acronym / sponsor ID
- NS-DUPI / RC31/19/0045
- Conditions
- Netherton Syndrome
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: no more patients corresponding to the criteriae
- Enrolment
- 10 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Collaborators
- MedSharing
- Study start
- 23 Jul 2020 (actual)
- Primary completion
- 1 Jun 2022 (actual)
- Study completion
- 15 Nov 2022 (actual)
- First posted
- 28 Jan 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To date, there are no effective therapy for the management of Netherton Syndrome (NS) Patients use emollients with a limited efficacy on scaling and no efficacy on skin inflammation and pruritus. They may also use topical corticosteroids or calcineurin inhibitors in case of eczematous lesions. The use of therapies targeting skin inflammation has been reported in a few case reports. Their efficacy is very limited and their uses are limited because of the chronicity of the disease, the impaired skin barrier function and the risk for skin infections and skin cancers. Therefore, there is a huge medical need for novel therapies in NS.The expected consequences of this study are that a 16-week course of dupilumab will be more effective than placebo for the treatment of moderate to severe NS Dupilumab could therefore improve skin condition and quality of life.
Detailed description
This is a proof of concept (pilot) double-blind randomized placebo-controlled study evaluating the efficacy and safety of dupilumab for the treatment of NS. Patients will be randomized in a 2:1 ratio to receive dupilumab (2 doses of 300 mg), or placebo, at baseline and then 1 dose of dupilumab 300 mg, or placebo, every 2 weeks until week 14 (total of 8 administrations).Moderate to severe NS were selected in order to be able to measure the improvement of skin condition.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind (participant, care provider, investigator)
- Number of arms
- 2
- Model description
- one arm with dupilumab (2/3 of patients) and one arm with placebo (1/3 of patients)
| Arm | Type | Receives |
|---|---|---|
| Dupilumab | Experimental | Drug: Dupilumab Prefilled SyringeThe patient will receive 2 doses at baseline and then 1 dose every 2 weeks (8 administrations in total) of Dupilumab 300 mg (syringe of 2 mL for subcutaneous administration). |
| Placebo | Placebo comparator | Other: Placebo Prefilled SyringeThe patient will receive 2 doses at baseline and then 1 dose every 2 weeks (8 administrations in total) of placebo (syringe of 2 mL for subcutaneous administration).. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (13 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Dupilumab Prefilled Syringeadministration of dupilumab corresponding to dupilumab arm | Drug | Dupilumab |
| Placebo Prefilled Syringeadministration of placebo corresponding to placebo arm | Other | Placebo |
Primary outcome
The severity of the disease of the Netherton Area Severity Assessment score (NASA).
Time frame: Day 0 and week 16
NASA score
9 secondary outcomes
Clinical efficacy severity of pruritus and pain
Time frame: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
Presence of infections (adverse event)
Time frame: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
Quantity of dermocorticosteroids used between each visit will be evaluated by questioning the patient.
Time frame: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
QOL score
Time frame: Day 0, Week 16 and 28
Skin inflammation
Time frame: Day 0 and week 16
Protease activity
Time frame: Day 0 and week 16
Microbiome qualitative and quantitative analysis
Time frame: Day 0 and week 16
Transepidermal water loss (TEWL)
Time frame: Day 0 and Week 16
Safety of dupilumab
Time frame: Day 0, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 28
Results and safety
The study was stopped early (reason given: no more patients corresponding to the criteriae). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Juliette MAZEREEUW-HAUTIER principal investigator
Toulouse Hospital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing Dupilumab Prefilled Syringe in people with Netherton Syndrome, run by University Hospital, Toulouse at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 21 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: no more patients corresponding to the criteriae). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The severity of the disease of the Netherton Area Severity Assessment score (NASA). (time frame: Day 0 and week 16). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Sep 2026.