NCT02081313

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
18

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Oct 2014

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 5, 2014

Completed
2 days until next milestone

First Posted

Study publicly available on registry

March 7, 2014

Completed
7 months until next milestone

Study Start

First participant enrolled

October 1, 2014

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2016

Completed
3 days until next milestone

Study Completion

Last participant's last visit for all outcomes

September 4, 2016

Completed
Last Updated

December 4, 2025

Status Verified

August 1, 2021

Enrollment Period

1.9 years

First QC Date

March 5, 2014

Last Update Submit

November 26, 2025

Conditions

Netherton SyndromeHealthy

Keywords

Netherton syndromeImmune systemSkin barrier

Outcome Measures

Primary Outcomes (1)

  • Measurement of seric cytokines levels

    3 months after patient recruitment

Secondary Outcomes (1)

  • Pattern of skin abnormalities

    3 months after patient recruitment

Study Arms (2)

Netherton syndrome

ACTIVE COMPARATOR

Patients with Netherton syndrome

Other: BiopsyOther: Blood sample

Healthy controls

ACTIVE COMPARATOR

healthy controls

Other: BiopsyOther: Blood sample

Interventions

BiopsyOTHER
Healthy controlsNetherton syndrome
Blood sampleOTHER
Healthy controlsNetherton syndrome

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

  • Bleeding disorder precluding skin biopsy

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Imagine Institute for genetic diseases

Paris, 75015, France

Location

Related Publications (2)

  • 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.

    PMID: 34543653RESULT

  • 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.

    PMID: 40908106RESULT

MeSH Terms

Conditions

Netherton Syndrome

Interventions

BiopsyBlood Specimen Collection

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesIchthyosiform Erythroderma, CongenitalIchthyosisSkin AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornInfant, Newborn, DiseasesKeratosisSkin DiseasesSkin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

CytodiagnosisCytological TechniquesClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisSpecimen HandlingDiagnostic Techniques, SurgicalSurgical Procedures, OperativeInvestigative TechniquesPunctures

Study Officials

  • Alain Hovnanian, MD, PhD

    INSERM U1163

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 5, 2014

First Posted

March 7, 2014

Study Start

October 1, 2014

Primary Completion

September 1, 2016

Study Completion

September 4, 2016

Last Updated

December 4, 2025

Record last verified: 2021-08

Locations

FR(1)