Netherton SyndromePhase 2AntiTNF-SNNCT02113904
Clinical Trial Using Humira in Netherton Syndrome
A Phase 2 study testing Adalimumab in people with Netherton Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment period follow-up of 3 months. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Netherton Syndrome
- What is being tested?
- Adalimumab
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 11 participants
- Where
- 1 siteFrance
- Study dates
- 27 Jan 2014to 21 Sep 2017
- Phase
- Phase 2
- 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 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient over 4 years of age at the time of enrolment
- Patient with a clinical, immuno-histochemical and/or molecular diagnosis confirmed
- Vaccinations to date
- Informed consent form signed by the patient and/or his parents (or the legal authority) if the patient is a child
- Patient with social security coverage
Who cannot join
- Ongoing severe infections
- Well known allergy to one of Adalimumab ingredients
- Allergy to xylocaine
- Ongoing treatment to immunosuppressive drugs and biotherapies
- History of malignancy
- Heart, renal, haematological and/or confirmed hepatic involvement
- Pregnant, or breastfeeding, patients
- Anomalies of the standard balance sheet: neutropenia < 1000/mm3, polynucleose > 12 000 / mm3 - lymphopenia < 1000 / mm3 - anemia < 9g / 100ml - thrombocytopenia < 150 000 /mm3, thrombocytosis > 500 000/mm3 - transaminase > 3N
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Phase II Clinical Trial Using Humira in Netherton Syndrome
The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment period follow-up of 3 months.
Second objectives are To evaluate the safety of Adalimumab in the context of NS To evaluate the improvement of the quality of life at 3 months To evaluate the improvement of pruritus and pain in the patients To study markers of inflammatory and allergy in NS prior and after treatment Benefit of the study An improvement by at least 20% of the cutaneous signs in these patients who suffer from a genetic incurable, chronic, painful and very afflicting disease would be of a great help for these patients. NS is a major source of social exclusion.
Read more
Risks They are inherent to the risks of biotherapies, especially for an anti-TNF therapy, they comprise a risk of infection. Cutaneous infections occur mainly during infancy, and we have therefore chosen to treat patients over 4 years of age in this study.
A close clinical surveillance will be set up (initially every week during the first month of treatment, then every month). This will represents a large number of visits but will provide a high level of security.
Benefits/risks ratio In the absence of curative treatment for these patients with a severe genetic skin disease, the benefits/risks ration clearly appears to be in favour of an expected benefit.
Read the detailed description
Netherton syndrome (NS) is a rare (incidence is estimated at 1 in 100 000) but severe genetic skin disease characterized by scaly erythroderma at birth, abnormal hair and severe psoriasiform /atopic dermatitis-like lesions with high IgE levels and allergic manifestations. It has considerable impact on the quality of life of patients, as a result of inflammatory and painful flares, the chronicity of the lesions, severe growth retardation with definitive short stature.
NS is caused by loss of function SPINK5 mutations which lead to unregulated epidermal protease activity : kallikrein 5, kallikrein 7 and elastase proteases are found overactive following loss of inhibition. Secondly, KLK5 activates PAR-2 receptors at the keratinocyte surface leading to the activation of the NF-KB pathway and the release of different pro-inflammatory cytokines such TNF-alpha .
There is no specific treatment for NS. The different therapeutic attempts by Soriatane (acitretin) have worsen the skin inflammation and dryness. The use of topical calcineurin inhibitors (Tacrolimus) has sometimes improved skin inflammation but with an important systemic diffusion. The use of immune suppressive drugs in severe patients with NS followed in our labelized Centre (Cyclosporine, methotrexate, mycophenolate mofetil) have not brought a significant and durable improvement. So NS is a very distressing genodermatosis.
For these clinical and biological considerations, a benefit with anti TNF treatment could be expected and the evaluation of such treatment is justified in NS. The clinical case of an adult patient with severe NS, improved by anti-Tnf treatment has recently been published in the literature
- Conditions
- Netherton Syndrome
- Being tested
- Adalimumab
- Keywords
- Netherton syndrome, Adalimumab, TNF-alpha, Orphan genetic syndrome
- Medical subject headings
- Netherton Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AdalimumabDrug
Also called Humira
6 injections (one every 15 days during 3 months)
| Study group | Role | What they receive |
|---|---|---|
| Adalimumab | Experimental | Not described Receives: Drug: Adalimumab |
What is being measured
The primary outcome is the main question the study is designed to answer.
SN-EASI score and EASI score
To evaluate the severity of specific netherthon syndrome clinical manifestation and the severity of atopic dermatitis before treatment, after three months of treatment, after a period of three months without treatment
Measured: month 3
Secondary outcomes (11)
SN-EASI score and EASI score
To evaluate the severity of specific netherthon syndrome clinical manifestation and the severity of atopic dermatitis before treatment, after three months of treatment, after a period of three months without treatment
Measured: at inclusion before treatment
SN-EASI score and EASI score
To evaluate the severity of specific netherthon syndrome clinical manifestation and the severity of atopic dermatitis before treatment, after three months of treatment, after a period of three months without treatment
Measured: month 6
Number of participants with adverse events
To evaluate the safety of adalimumab for netherton syndrome patients
Measured: month 3
CDLQI and DLQI
To evaluate the quality of life of the patients
Measured: at inclusion before treatment
CDLQI and DLQI
To evaluate the quality of life of the patients
Measured: month 3
CDLQI and DLQI
To evaluate the quality of life of the patients
Measured: month 6
Improvement of pain
Visual scale from 0 to 10
Measured: month 3
Improvement of pruritus
Visual scale from 0 to 10
Measured: month 3
Hair growth
Visual scale from 1 to 4
Measured: month 3
Circulating inflammatory response (pro-inflammatory cytokines) cutaneous inflammatory response
Markers of inflammatory response before and after treatment
Measured: month 3
Circulating inflammatory response (pro-inflammatory cytokines) cutaneous inflammatory response
Markers of inflammatory response before and after treatment
Measured: month 6
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2014 (estimated)
- Study start27 Jan 2014
- Primary completion20 Dec 2016
- Study completion21 Sep 2017
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 Assistance Publique - Hôpitaux de ParisThe 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
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Christine Bodemer, MD, PhD, Study chair, : Department of Dermatology, Necker Enfants malades hospital, University Paris Descartes 149 rue de sèvres 75015 Paris, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02113904
- Sponsor's protocol ID
- P100150
- Other IDs
- 2013-002205-54
- Acronym
- AntiTNF-SN
- Status last verified
- Oct 2017
- First submitted
- 2 Apr 2014
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase II Clinical Trial Using Humira in Netherton Syndrome
- ClinicalTrials.gov ID
- NCT02113904
- Acronym / sponsor ID
- AntiTNF-SN / P100150
- Conditions
- Netherton Syndrome
- Keywords
- Netherton syndrome, Adalimumab, TNF-alpha, Orphan genetic syndrome
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 27 Jan 2014 (actual)
- Primary completion
- 20 Dec 2016 (actual)
- Study completion
- 21 Sep 2017 (actual)
- First posted
- 15 Apr 2014 (estimated)
- 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.
The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment period follow-up of 3 months.
Second objectives are To evaluate the safety of Adalimumab in the context of NS To evaluate the improvement of the quality of life at 3 months To evaluate the improvement of pruritus and pain in the patients To study markers of inflammatory and allergy in NS prior and after treatment Benefit of the study An improvement by at least 20% of the cutaneous signs in these patients who suffer from a genetic incurable, chronic, painful and very afflicting disease would be of a great help for these patients. NS is a major source of social exclusion.
Risks They are inherent to the risks of biotherapies, especially for an anti-TNF therapy, they comprise a risk of infection. Cutaneous infections occur mainly during infancy, and we have therefore chosen to treat patients over 4 years of age in this study.
A close clinical surveillance will be set up (initially every week during the first month of treatment, then every month). This will represents a large number of visits but will provide a high level of security.
Benefits/risks ratio In the absence of curative treatment for these patients with a severe genetic skin disease, the benefits/risks ration clearly appears to be in favour of an expected benefit.
Detailed description
Netherton syndrome (NS) is a rare (incidence is estimated at 1 in 100 000) but severe genetic skin disease characterized by scaly erythroderma at birth, abnormal hair and severe psoriasiform /atopic dermatitis-like lesions with high IgE levels and allergic manifestations. It has considerable impact on the quality of life of patients, as a result of inflammatory and painful flares, the chronicity of the lesions, severe growth retardation with definitive short stature.
NS is caused by loss of function SPINK5 mutations which lead to unregulated epidermal protease activity : kallikrein 5, kallikrein 7 and elastase proteases are found overactive following loss of inhibition. Secondly, KLK5 activates PAR-2 receptors at the keratinocyte surface leading to the activation of the NF-KB pathway and the release of different pro-inflammatory cytokines such TNF-alpha .
There is no specific treatment for NS. The different therapeutic attempts by Soriatane (acitretin) have worsen the skin inflammation and dryness. The use of topical calcineurin inhibitors (Tacrolimus) has sometimes improved skin inflammation but with an important systemic diffusion. The use of immune suppressive drugs in severe patients with NS followed in our labelized Centre (Cyclosporine, methotrexate, mycophenolate mofetil) have not brought a significant and durable improvement. So NS is a very distressing genodermatosis.
For these clinical and biological considerations, a benefit with anti TNF treatment could be expected and the evaluation of such treatment is justified in NS. The clinical case of an adult patient with severe NS, improved by anti-Tnf treatment has recently been published in the literature
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adalimumab | Experimental | Drug: Adalimumab |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Patient over 4 years of age at the time of enrolment
- Patient with a clinical, immuno-histochemical and/or molecular diagnosis confirmed
- Vaccinations to date
- Informed consent form signed by the patient and/or his parents (or the legal authority) if the patient is a child
- Patient with social security coverage
Key exclusion criteria (8 listed)
- Ongoing severe infections
- Well known allergy to one of Adalimumab ingredients
- Allergy to xylocaine
- Ongoing treatment to immunosuppressive drugs and biotherapies
- History of malignancy
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 |
|---|---|---|
| AdalimumabAlso: Humira6 injections (one every 15 days during 3 months) | Drug | Adalimumab |
Primary outcome
SN-EASI score and EASI score
Time frame: month 3
To evaluate the severity of specific netherthon syndrome clinical manifestation and the severity of atopic dermatitis before treatment, after three months of treatment, after a period of three months without treatment
11 secondary outcomes
SN-EASI score and EASI score
Time frame: at inclusion before treatment
SN-EASI score and EASI score
Time frame: month 6
Number of participants with adverse events
Time frame: month 3
CDLQI and DLQI
Time frame: at inclusion before treatment
CDLQI and DLQI
Time frame: month 3
CDLQI and DLQI
Time frame: month 6
Improvement of pain
Time frame: month 3
Improvement of pruritus
Time frame: month 3
Hair growth
Time frame: month 3
Circulating inflammatory response (pro-inflammatory cytokines) cutaneous inflammatory response
Time frame: month 3
Circulating inflammatory response (pro-inflammatory cytokines) cutaneous inflammatory response
Time frame: month 6
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
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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.
Christine Bodemer, MD, PhD study chair
: Department of Dermatology, Necker Enfants malades hospital, University Paris Descartes 149 rue de sèvres 75015 Paris, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Adalimumab in people with Netherton Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site 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 8 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: finished, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this 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.
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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
SN-EASI score and EASI score (time frame: month 3). 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 8 Apr 2026.