NSnatbio: Natural History and Biological Study of Netherton Syndrome
Sponsor
Institut National de la Santé Et de la Recherche Médicale, France (Other)
Overall Status
Unknown status
CT.gov ID
NCT02081313
Collaborator
(none)
30
1
2
43
0.7
Study Details
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
Study Design
Study Type:
Interventional
Anticipated Enrollment
:
30 participants
Allocation:
Non-Randomized
Intervention Model:
Single Group Assignment
Masking:
None (Open Label)
Primary Purpose:
Basic Science
Official Title:
Syndrome de Netherton : Aspects Cliniques, Physiopathologiques et Identification de Cibles thérapeutiques
Study Start Date
:
Apr 1, 2014
Anticipated Primary Completion Date
:
Nov 1, 2016
Anticipated Study Completion Date
:
Nov 1, 2017
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Active Comparator: Netherton syndrome Patients with Netherton syndrome |
Other: Biopsy
Other: Blood sample
|
| Active Comparator: Healthy controls healthy controls |
Other: Biopsy
Other: Blood sample
|
Outcome Measures
Primary Outcome Measures
- Measurement of seric cytokines levels [3 months after patient recruitment]
Secondary Outcome Measures
- Pattern of skin abnormalities [3 months after patient recruitment]
Eligibility Criteria
Criteria
Ages Eligible for Study:
N/A
and Older
Sexes Eligible for Study:
All
Accepts 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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Imagine Institute for genetic diseases | Paris | France | 75015 |
Sponsors and Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France
Investigators
- Principal Investigator: Alain Hovnanian, MD, PhD, INSERM U1163
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.Responsible Party:
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT02081313
Other Study ID Numbers:
- C12-56
- 2013-A00275-40
First Posted:
Mar 7, 2014
Last Update Posted:
Feb 4, 2015
Last Verified:
Feb 1, 2015
Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France
Additional relevant MeSH terms: