Natural History and Biological Study of Netherton Syndrome
NCT ID: NCT02081313
Last Updated: 2025-12-04
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
18 participants
INTERVENTIONAL
2014-10-01
2016-09-04
Brief Summary
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Detailed Description
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Conditions
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Study Design
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NON_RANDOMIZED
PARALLEL
BASIC_SCIENCE
Study Groups
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Netherton syndrome
Patients with Netherton syndrome
Biopsy
Blood sample
Healthy controls
healthy controls
Biopsy
Blood sample
Interventions
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Biopsy
Blood sample
Eligibility Criteria
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Inclusion Criteria
* Confirmed diagnosis of Netherton syndrome
* Signed informed consent form for the patient or his legal representative
Exclusion Criteria
ALL
Yes
Sponsors
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Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Responsible Party
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Principal Investigators
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Alain Hovnanian, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
INSERM U1163
Locations
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Imagine Institute for genetic diseases
Paris, , France
Countries
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References
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Barbieux C, Bonnet des Claustres M, Fahrner M, Petrova E, Tsoi LC, Gouin O, Leturcq F, Nicaise-Roland P, Bole C, Beziat V, Bourrat E, Schilling O, Gudjonsson JE, Hovnanian A. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-alpha and allergic responses. J Allergy Clin Immunol. 2022 Apr;149(4):1358-1372. doi: 10.1016/j.jaci.2021.08.024. Epub 2021 Sep 17.
Petrova E, Duthoit A, Prassas I, Hovnanian A. Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis. Am J Physiol Cell Physiol. 2025 Oct 1;329(4):C1139-C1149. doi: 10.1152/ajpcell.01027.2024. Epub 2025 Sep 4.
Other Identifiers
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2013-A00275-40
Identifier Type: REGISTRY
Identifier Source: secondary_id
C12-56
Identifier Type: -
Identifier Source: org_study_id
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