Natural History of Netherton Syndrome

Boehringer Ingelheim (Industry)
Overall Status
Not yet recruiting ID

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Anticipated Enrollment :
    100 participants
    Observational Model:
    Time Perspective:
    Official Title:
    Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease
    Anticipated Study Start Date :
    Aug 28, 2023
    Anticipated Primary Completion Date :
    Feb 1, 2025
    Anticipated Study Completion Date :
    Feb 1, 2025

    Arms and Interventions

    Arm Intervention/Treatment
    Patients diagnosed with Netherton Syndrome

    Outcome Measures

    Primary Outcome Measures

    1. Severity of Netherton Syndrome (NS) assessed by the Ichthyosis Area Severity Index (IASI) [up to 1 year]

      For patients participating in Part 2. IASI is a composite score that evaluates severity of erythema (subscale IASI-E) and scaling (subscale IASI-S) in different body regions as a function of their respective body surface areas. Severity of erythema and scaling is rated on a 5-point Likert scale of 0-4 in each of 4 body regions: head and neck (including scalp), arms (including palms), legs (including soles) and trunk, prorated based on body surface area in these body regions and the percentage of involvement in each of these body regions. The total IASI score ranges between 0-48 (i.e., sum of a maximum score of 24 for erythema and maximum score of 24 for scaling). Higher score denotes worse clinical severity.

    Secondary Outcome Measures

    1. Severity Netherton Syndrome (NS) assessed by the Investigator Global Assessment (IGA) [up to 1 year]

      For patients participating in Part 2. IGA for NS will assess the global severity of erythema and scaling in NS using 5-point Likert scale ranging from 0=clear, to 4=severe.

    Eligibility Criteria


    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    Accepts Healthy Volunteers:

    Inclusion criteria [for Part 1 and Part 2]

    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).

    1. 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 [for Part 1 and Part 2]

    1. Deceased patients and patients whose survival status are not known, who were diagnosed prior to 2002.

    Contacts and Locations


    No locations specified.

    Sponsors and Collaborators

    • Boehringer Ingelheim


    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:


    None provided.
    Responsible Party:
    Boehringer Ingelheim Identifier:
    Other Study ID Numbers:
    • 1368-0121
    First Posted:
    Jun 15, 2023
    Last Update Posted:
    Jun 22, 2023
    Last Verified:
    Jun 1, 2023
    Individual Participant Data (IPD) Sharing Statement:
    Plan to Share IPD:
    Studies a U.S. FDA-regulated Drug Product:
    Studies a U.S. FDA-regulated Device Product:
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Jun 22, 2023