Natural History and Biological Study of Netherton Syndrome

NCT ID: NCT02081313

Last Updated: 2025-12-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

18 participants

Study Classification

INTERVENTIONAL

Study Start Date

2014-10-01

Study Completion Date

2016-09-04

Brief Summary

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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.

Detailed Description

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Conditions

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Netherton Syndrome Healthy

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Study Groups

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Netherton syndrome

Patients with Netherton syndrome

Group Type ACTIVE_COMPARATOR

Biopsy

Intervention Type OTHER

Blood sample

Intervention Type OTHER

Healthy controls

healthy controls

Group Type ACTIVE_COMPARATOR

Biopsy

Intervention Type OTHER

Blood sample

Intervention Type OTHER

Interventions

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Biopsy

Intervention Type OTHER

Blood sample

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Adult or child (no age limit)
* Confirmed diagnosis of Netherton syndrome
* Signed informed consent form for the patient or his legal representative

Exclusion Criteria

* Bleeding disorder precluding skin biopsy
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Alain Hovnanian, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

INSERM U1163

Locations

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Imagine Institute for genetic diseases

Paris, , France

Site Status

Countries

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France

References

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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.

Reference Type RESULT
PMID: 34543653 (View on PubMed)

Petrova 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.

Reference Type RESULT
PMID: 40908106 (View on PubMed)

Other Identifiers

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2013-A00275-40

Identifier Type: REGISTRY

Identifier Source: secondary_id

C12-56

Identifier Type: -

Identifier Source: org_study_id

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