Natural History and Biological Study of Netherton Syndrome

Not Applicable

Completed

• Conditions: Netherton Syndrome; Healthy

• Registration Number: NCT02081313
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2014-03-05
• Study First Submitted QC: 2014-03-06
• Study First Posted: 2014-03-07
• Study Start: 2014-10-01
• Primary Completion: 2016-09
• Study Completion: 2016-09-04
• Status Verified: 2021-08
• Last Update Submitted: 2025-04-09
• Last Update Posted: 2025-04-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 18

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
Measurement of seric cytokines levels	3 months after patient recruitment

Secondary Outcome Measures

Name	Time	Method
Pattern of skin abnormalities	3 months after patient recruitment

Trial Locations

Locations (1)

Imagine Institute for genetic diseases; 🇫🇷 Paris, France