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TERMINATED

Natural History of Netherton Syndrome

Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease

NCT05902663•Boehringer Ingelheim

Summary

The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).

Eligibility

Age

All ages

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•1. Confirmed diagnosis of NS by at least one of the following:
•* Genetic testing of mutations in Serine Protease Inhibitor of Kazal Type 5 (SPINK5);
•* Absence or major deficiency of the protein Lympho-Epithelial Kazal-Type-Related Inhibitor (LEKTI) in skin biopsy;
•* Clinical assessment (signs and symptoms).
•2. Provision of consent or assent (i.e., by parent or legal guardian) as required by local regulations:
•* \[Part 1\] to authorise access to existing medical records for study data collection;
•* \[Part 2\] to participate in the longitudinal 52-week evaluation of disease severity and clinical outcome assessments.
•\[for Part 2 only\]
•3. Not participating in a clinical trial at the time of study enrolment for Part 2.

Exclusion Criteria

•1. Patient who has died prior to 2002.
•2. Patient whose last known survival status is dated prior to 2002 (i.e., patient has been lost to clinical follow-up since 2002).

Locations (4)

Mission Dermatology Center

Rancho Santa Margarita, California, United States

Northwestern University

Chicago, Illinois, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Istituto Dermopatico Dell'Immacolata - IDI - IRCCS

Roma, Italy

Key Dates

Start Date

October 9, 2024

Primary Completion Date

March 31, 2025

Completion Date

March 31, 2025

Last Updated

October 10, 2025

Enrollment

ACTUAL participants

Conditions

Netherton Syndrome

Safety, Tolerability and Efficacy of QRX003 Lotion in Subjects With Netherton Syndrome

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Netherton Syndrome

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NOT_YET_RECRUITING

Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome

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Netherton Syndrome

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COMPLETEDPHASE1

A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: October 10, 2025Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

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Natural History of Netherton Syndrome

Inclusion Criteria

Exclusion Criteria

Safety, Tolerability and Efficacy of QRX003 Lotion in Subjects With Netherton Syndrome

Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome

A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome

Clinical Trial Using Humira in Netherton Syndrome