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Completed

NCT Number: NCT02081313

Natural History and Biological Study of Netherton Syndrome

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.

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Key information

Conditions

Netherton Syndrome Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Healthy Ichthyosiform Erythroderma, Congenital Ichthyosis Infant, Newborn, Diseases Keratosis Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Imagine Institute for genetic diseases

Paris, 75015, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Biopsy

Other

blood sample

Other

Primary outcomes

  1. Measurement of seric cytokines levels

    Time frame: 3 months after patient recruitment

Secondary outcomes

  1. Pattern of skin abnormalities

    Time frame: 3 months after patient recruitment

Sponsors and collaborators

Lead sponsor

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

Other Gov

Registry information

Official study title

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

Acronym: NSnatbio

Important dates

Study start
2014
Primary completion
2016
Study completion
2016
First posted
Mar 7, 2014
Registry last updated
Dec 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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