Natural History and Biological Study of Netherton Syndrome

Syndrome de Netherton : Aspects Cliniques, Physiopathologiques et Identification de Cibles thérapeutiques

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT02081313

Acronym

NSnatbio

Enrollment

Registered

2014-03-07

Start date

2014-10-01

Completion date

2016-09-04

Last updated

2025-12-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Healthy, Netherton Syndrome

Keywords

Netherton syndrome, Immune system, Skin barrier

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.

Interventions

OTHERBiopsy

OTHERBlood sample

Study design

Allocation

NON_RANDOMIZED

Intervention model

PARALLEL

Primary purpose

BASIC_SCIENCE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame
Measurement of seric cytokines levels	3 months after patient recruitment

Secondary

Measure	Time frame
Pattern of skin abnormalities	3 months after patient recruitment

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026