Natural History of Netherton Syndrome
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 |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Patients diagnosed with Netherton Syndrome
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Outcome Measures
Primary Outcome Measures
- 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
- 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
Criteria
Inclusion criteria [for Part 1 and Part 2]
- Confirmed diagnosis of NS by at least one of the following:
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Genetic testing of mutations in Serine Protease Inhibitor of Kazal Type 5 (SPINK5);
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Absence or major deficiency of the protein Lympho-Epithelial Kazal-Type-Related Inhibitor (LEKTI) in skin biopsy;
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Clinical assessment (signs and symptoms).
- Provision of consent or assent (i.e., by parent or legal guardian) as required by local regulations:
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[Part 1] to authorise access to existing medical records for study data collection;
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[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]
- Deceased patients and patients whose survival status are not known, who were diagnosed prior to 2002.
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Boehringer Ingelheim
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
None provided.- 1368-0121