Netherton SyndromeNSnatbioNCT02081313
Natural History and Biological Study of Netherton Syndrome
A study testing Biopsy and Blood sample in people with Netherton Syndrome and Healthy, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Netherton Syndrome, Healthy
- What is being tested?
- Biopsy and Blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 18 participants
- Where
- 1 siteFrance
- Study dates
- 1 Oct 2014to 4 Sep 2016
- Phase
- Interventional
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Adult or child (no age limit)
- Confirmed diagnosis of Netherton syndrome
- Signed informed consent form for the patient or his legal representative
Who cannot join
- Bleeding disorder precluding skin biopsy
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Syndrome de Netherton : Aspects Cliniques, Physiopathologiques et Identification de Cibles thérapeutiques
This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease.
- Conditions
- Netherton Syndrome, Healthy
- Being tested
- Biopsy, Blood sample
- Keywords
- Netherton syndrome, Immune system, Skin barrier
- Medical subject headings
- Netherton Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
BiopsyOther
Blood sampleOther
| Study group | Role | What they receive |
|---|---|---|
| Netherton syndrome | Active comparator | Patients with Netherton syndrome Receives: Other: Biopsy; Other: Blood sample |
| Healthy controls | Active comparator | healthy controls Receives: Other: Biopsy; Other: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of seric cytokines levels
Measured: 3 months after patient recruitment
Secondary outcomes (1)
Pattern of skin abnormalities
Measured: 3 months after patient recruitment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Mar 2014 (estimated)
- Study start1 Oct 2014
- Primary completionSep 2016
- Study completion4 Sep 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Netherton SyndromeStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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 N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Alain Hovnanian, MD, PhD, Principal investigator, INSERM U1163
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02081313
- Sponsor's protocol ID
- C12-56
- Other IDs
- 2013-A00275-40
- Acronym
- NSnatbio
- Status last verified
- Aug 2021
- First submitted
- 5 Mar 2014
- Last updated
- 4 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
Barbieux C, Bonnet des Claustres M, Fahrner M, Petrova E, Tsoi LC, Gouin O, Leturcq F, Nicaise-Roland P, Bole C, Beziat V, Bourrat E, Schilling O, Gudjonsson JE, Hovnanian A. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-alpha and allergic responses. J Allergy Clin Immunol. 2022 Apr;149(4):1358-1372. doi: 10.1016/j.jaci.2021.08.024. Epub 2021 Sep 17.
PubMed 34543653Petrova E, Duthoit A, Prassas I, Hovnanian A. Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis. Am J Physiol Cell Physiol. 2025 Oct 1;329(4):C1139-C1149. doi: 10.1152/ajpcell.01027.2024. Epub 2025 Sep 4.
PubMed 40908106
Study at a glance
From the registry record, last updated by the sponsor on 4 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Syndrome de Netherton : Aspects Cliniques, Physiopathologiques et Identification de Cibles thérapeutiques
- ClinicalTrials.gov ID
- NCT02081313
- Acronym / sponsor ID
- NSnatbio / C12-56
- Conditions
- Netherton Syndrome, Healthy
- Keywords
- Netherton syndrome, Immune system, Skin barrier
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 1 Oct 2014 (actual)
- Primary completion
- Sep 2016 (actual)
- Study completion
- 4 Sep 2016 (actual)
- First posted
- 7 Mar 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.
This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Netherton syndrome | Active comparator | Other: Biopsy, Other: Blood samplePatients with Netherton syndrome |
| Healthy controls | Active comparator | Other: Biopsy, Other: Blood samplehealthy controls |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Adult or child (no age limit)
- Confirmed diagnosis of Netherton syndrome
- Signed informed consent form for the patient or his legal representative
Key exclusion criteria (1 listed)
- Bleeding disorder precluding skin biopsy
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 |
|---|---|---|
| Biopsy | Other | Healthy controls, Netherton syndrome |
| Blood sample | Other | Healthy controls, Netherton syndrome |
Primary outcome
Measurement of seric cytokines levels
Time frame: 3 months after patient recruitment
1 secondary outcome
Pattern of skin abnormalities
Time frame: 3 months after patient recruitment
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 4 Dec 2025.
- Results publication: PubMed 34543653Barbieux C, Bonnet des Claustres M, Fahrner M, Petrova E, Tsoi LC, Gouin O, Leturcq F, Nicaise-Roland P, Bole C, Beziat V, Bourrat E, Schilling O, Gudjonsson JE, Hovnanian A. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-alpha and allergic responses. J Allergy Clin Immunol. 2022 Apr;149(4):1358-1372. doi: 10.1016/j.jaci.2021.08.024. Epub 2021 Sep 17.
- Results publication: PubMed 40908106Petrova E, Duthoit A, Prassas I, Hovnanian A. Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis. Am J Physiol Cell Physiol. 2025 Oct 1;329(4):C1139-C1149. doi: 10.1152/ajpcell.01027.2024. Epub 2025 Sep 4.
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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.
Alain Hovnanian, MD, PhD principal investigator
INSERM U1163
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biopsy and Blood sample in people with Netherton Syndrome and Healthy, run by Institut National de la Santé Et de la Recherche Médicale, France 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 3 inclusion and 1 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 4 Dec 2025. 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.
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?
Measurement of seric cytokines levels (time frame: 3 months after patient recruitment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02081313, which also lists 2 linked publications.
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 4 Dec 2025.