Natural History and Biological Study of Netherton Syndrome (NSnatbio)

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

Status: Completed

Conditions: Healthy; Netherton Syndrome

Treatments: Other: Blood sample; Other: Biopsy

Study type: Interventional

Funder types: Other

Identifiers

NCT02081313

C12-56

2013-A00275-40 (Registry Identifier)

Details and patient eligibility

About

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.

Enrollment: 18 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

18 participants in 2 patient groups

Netherton syndrome

Active Comparator group

Description:

Patients with Netherton syndrome

Treatment:

Other: Biopsy

Other: Blood sample

Healthy controls

Active Comparator group

Description:

healthy controls

Treatment:

Other: Biopsy

Other: Blood sample