Natural History of Netherton Syndrome

Netherton Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05902663
• Other study ID #: 1368-0121
• Status: Not yet recruiting
• Start date: June 18, 2024
• Est. completion date: May 31, 2026

Study information

• Verified date: May 2024
• Source: Boehringer Ingelheim
• Contact: Boehringer Ingelheim
• Phone: 1-800-243-0127
• Email: clintriage.rdg[@]boehringer-ingelheim.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 100
• Est. completion date: May 31, 2026
• Est. primary completion date: May 31, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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).

Related Conditions & MeSH terms

• Netherton Syndrome
• Syndrome

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Boehringer Ingelheim

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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

External Links

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