Natural History of Netherton Syndrome

NCT05902663 | Terminated

• 2 other identifiers: 1368-0121EUPAS103733
• Study Type: observational
• Target: 12
• Locations: 2 countries
• Sites: 4

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).

Conditions

Netherton Syndrome

Outcome Measures

Primary Outcomes (1)

• Severity of Netherton Syndrome (NS) assessed by the Ichthyosis Area Severity Index (IASI)

  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.

  up to 1 year

Secondary Outcomes (1)

• Severity Netherton Syndrome (NS) assessed by the Investigator Global Assessment (IGA)

  up to 1 year

Study Arms (1)

Patients diagnosed with Netherton Syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Sites will identify all patients diagnosed and treated for NS in routine clinical practice to form the base cohort for study eligibility assessment. Patients in the base cohort will be further reviewed for study eligibility based on the criteria below. Part 1 - retrospective data collection: In Part 1 of the study clinical data will be abstracted from patients' existing medical records from the date of study enrolment back to the date of initial diagnosis of NS. Part 2 - prospective data collection: In Part 2, patients who are not enrolled in a clinical trial at the time of study inclusion will be asked to provide additional consent/assent to participate in a 52-week follow-up for continuous clinical data collection from medical records and completion of Clinician-Reported Outcomes (ClinRO) and Patient-Reported Outcomes (PRO) assessments.

You may qualify if:

• 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).
• 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.
• \[for Part 2 only\]
• Not participating in a clinical trial at the time of study enrolment for Part 2.

You may not qualify if:

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

Sponsors & Collaborators

• Boehringer Ingelheim: lead

Study Sites (4)

Mission Dermatology Center

Rancho Santa Margarita, California, 92688, United States

Location

Northwestern University

Chicago, Illinois, 60611, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Istituto Dermopatico Dell'Immacolata - IDI - IRCCS

Roma, 00167, Italy

Location

Related Links

• Related Info

MeSH Terms

Conditions

Netherton Syndrome

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 24, 2023
• First Posted: June 15, 2023
• Study Start: October 9, 2024
• Primary Completion: March 31, 2025
• Study Completion: March 31, 2025
• Last Updated: October 10, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (3); IT (1)