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Natural History and Biological Study of Netherton Syndrome (NSnatbio)

Primary Purpose

Netherton Syndrome, Healthy

Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Biopsy
Blood sample
Sponsored by
Institut National de la Santé Et de la Recherche Médicale, France
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Netherton Syndrome focused on measuring Netherton syndrome, Immune system, Skin barrier

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesAccepts 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

Sites / Locations

  • Imagine Institute for genetic diseasesRecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Active Comparator

Active Comparator

Arm Label

Netherton syndrome

Healthy controls

Arm Description

Patients with Netherton syndrome

healthy controls

Outcomes

Primary Outcome Measures

Measurement of seric cytokines levels

Secondary Outcome Measures

Pattern of skin abnormalities

Full Information

First Posted
March 5, 2014
Last Updated
February 3, 2015
Sponsor
Institut National de la Santé Et de la Recherche Médicale, France
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1. Study Identification

Unique Protocol Identification Number
NCT02081313
Brief Title
Natural History and Biological Study of Netherton Syndrome
Acronym
NSnatbio
Official Title
Syndrome de Netherton : Aspects Cliniques, Physiopathologiques et Identification de Cibles thérapeutiques
Study Type
Interventional

2. Study Status

Record Verification Date
February 2015
Overall Recruitment Status
Unknown status
Study Start Date
April 2014 (undefined)
Primary Completion Date
November 2016 (Anticipated)
Study Completion Date
November 2017 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Institut National de la Santé Et de la Recherche Médicale, France

4. Oversight

Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Netherton Syndrome, Healthy
Keywords
Netherton syndrome, Immune system, Skin barrier

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
30 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Netherton syndrome
Arm Type
Active Comparator
Arm Description
Patients with Netherton syndrome
Arm Title
Healthy controls
Arm Type
Active Comparator
Arm Description
healthy controls
Intervention Type
Other
Intervention Name(s)
Biopsy
Intervention Type
Other
Intervention Name(s)
Blood sample
Primary Outcome Measure Information:
Title
Measurement of seric cytokines levels
Time Frame
3 months after patient recruitment
Secondary Outcome Measure Information:
Title
Pattern of skin abnormalities
Time Frame
3 months after patient recruitment

10. Eligibility

Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Alain Hovnanian, MD, PhD
Phone
33142754289
Email
alain.hovnanian@inserm.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Laetitia Furio, PhD
Phone
33142754368
Email
laetitia.furio@inserm.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Alain Hovnanian, MD, PhD
Organizational Affiliation
INSERM U1163
Official's Role
Principal Investigator
Facility Information:
Facility Name
Imagine Institute for genetic diseases
City
Paris
ZIP/Postal Code
75015
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Alain Hovnanian, MD, PhD

12. IPD Sharing Statement

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Natural History and Biological Study of Netherton Syndrome

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