Natural History and Biological Study of Netherton Syndrome (NSnatbio)

November 26, 2025 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

18

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75015
        • Imagine Institute for genetic diseases

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Active Comparator: Netherton syndrome
Patients with Netherton syndrome
Other: Blood sample
Other: Biopsy
Active Comparator: Healthy controls
healthy controls
Other: Blood sample
Other: Biopsy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Measurement of seric cytokines levels
Time Frame: 3 months after patient recruitment
3 months after patient recruitment

Secondary Outcome Measures

Outcome Measure
Time Frame
Pattern of skin abnormalities
Time Frame: 3 months after patient recruitment
3 months after patient recruitment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Investigators

  • Principal Investigator: Alain Hovnanian, MD, PhD, INSERM U1163

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 1, 2014

Primary Completion (Actual)

September 1, 2016

Study Completion (Actual)

September 4, 2016

Study Registration Dates

First Submitted

March 5, 2014

First Submitted That Met QC Criteria

March 6, 2014

First Posted (Estimated)

March 7, 2014

Study Record Updates

Last Update Posted (Estimated)

December 4, 2025

Last Update Submitted That Met QC Criteria

November 26, 2025

Last Verified

August 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C12-56
  • 2013-A00275-40 (Registry Identifier: IDRCB)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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