Netherton Syndrome
Conditions
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).
Interventions
None listed
Sponsors
Boehringer Ingelheim
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 | At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first. | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Severity of Netherton Syndrome (NS) Assessed by the Investigator Global Assessment (IGA) | At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first. | 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. |
Countries
Italy, United States
Participant flow
Recruitment details
In this observational and non-interventional, multi-center cohort study, real-world data on patients managed for Netherton Syndrome (NS) were collected. To describe the natural history of NS and to evaluate longitudinal assessment of clinical outcomes, a 2-part study was proposed to collect both existing data in medical records and new data on clinical outcomes. No participants were enrolled in Part 2 before study termination.
Pre-assignment details
All subjects were screened for eligibility prior to participation in the trial. Subjects attended a specialist site which ensured that they (the subjects) strictly met all inclusion and none of the exclusion criteria. Subjects were not to be allocated to a treatment group if any of the entry criteria were violated.
Baseline characteristics
| Characteristic | — |
|---|---|
| Age, Continuous | 32.14 Years STANDARD_DEVIATION 22.11 |
| Ethnicity (NIH/OMB) Hispanic or Latino | 0 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 4 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 1 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants |
| Race (NIH/OMB) More than one race | 1 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) White | 2 Participants |
| Sex: Female, Male Female | 1 Participants |
| Sex: Female, Male Male | 3 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 0 |
| other Total, other adverse events | 0 / 0 |
| serious Total, serious adverse events | 0 / 0 |
Outcome results
None listed