Natural History and Biological Study of Netherton Syndrome

N/ACompletedNCT02081313

Institut National de la Santé Et de la Recherche Médicale, France18 enrolled

Overview

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 Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Enrollment

Conditions

Netherton Syndrome Healthy

Interventions

BiopsyOTHER

Blood sampleOTHER

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Imagine Institute for genetic diseases

Paris, France

Outcomes

Primary Outcomes

Measurement of seric cytokines levels

Time frame: 3 months after patient recruitment

Secondary Outcomes

Pattern of skin abnormalities

Time frame: 3 months after patient recruitment

Data from ClinicalTrials.gov

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