Natural History of Netherton Syndrome

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

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

Study Overview

• Status: Not yet recruiting
• Conditions: Netherton Syndrome

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Boehringer Ingelheim; Phone Number: 1-800-243-0127; Email: clintriage.rdg@boehringer-ingelheim.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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.

Description

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).

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patients diagnosed with Netherton Syndrome

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Severity Netherton Syndrome (NS) assessed by the Investigator Global Assessment (IGA)	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.	up to 1 year

Collaborators and Investigators

• Sponsor: Boehringer Ingelheim

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Estimated): April 30, 2024
• Primary Completion (Estimated): May 31, 2026
• Study Completion (Estimated): May 31, 2026

Study Registration Dates

• First Submitted: May 24, 2023
• First Submitted That Met QC Criteria: June 13, 2023
• First Posted (Actual): June 15, 2023

Study Record Updates

• Last Update Posted (Actual): April 17, 2024
• Last Update Submitted That Met QC Criteria: April 16, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Disease; Congenital Abnormalities; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Abnormalities; Abnormalities, Multiple; Keratosis; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Syndrome; Netherton Syndrome
• Other Study ID Numbers: 1368-0121

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

IPD Plan Description

Once the criteria in section "Time Frame" are fulfilled, researchers can use the following link https://www.mystudywindow.com/msw/datasharing to request access to the clinical study documents regarding this study, and upon a signed "Document Sharing Agreement".

Furthermore, researchers can request access to the clinical study data, for this and other listed studies, after the submission of a research proposal and according to the terms outlined in the website.

• IPD Sharing Time Frame: After structured results have been posted, all regulatory activities are completed in the US and EU for the product and indication, and after the primary manuscript has been accepted for publication.
• IPD Sharing Access Criteria: For study documents - upon signing of a 'Document Sharing Agreement'. For study data - 1. after the submission and approval of the research proposal (checks will be performed by the sponsor and/or the independent review panel, including checking that the planned analysis does not compete with sponsor's publication plan); 2. and upon signing of a legal agreement.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No