Natural History of Netherton Syndrome

Boehringer Ingelheim4 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Netherton Syndrome

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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). 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 \[for Part 1 and Part 2\] 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

Outcomes

Primary Outcomes

Clinical Assessment of Severity of Netherton Syndrome (NS) by Ichthyosis Area Severity Index (IASI) at Enrolment, Within 2 Weeks of Enrolment and at 16 and 52 Weeks of Follow-up

Ichthyosis Area Severity Index (IASI) at enrolment, within 2 weeks of enrolment and at 16 and 52 weeks of follow-up is reported. IASI is a Clinician-reported outcome (ClinRO) that results in a composite score comprising severity of erythema and scaling 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.

Time frame: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.

Secondary Outcomes

Severity of Netherton Syndrome (NS) Assessed by the Investigator Global Assessment (IGA)

Severity of Netherton Syndrome (NS) assessed by the Investigator Global Assessment (IGA) is reported. IGA is a ClinRO that assesses the global severity of erythema and scaling in NS patients using a 5-point Likert scale ranging from 0=clear, to 4=severe.

Time frame: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.

Data from ClinicalTrials.gov

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