Clinical trial NCT05902663: Natural History of Netherton Syndrome
Official title: Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Netherton Syndrome
Lead sponsor: Boehringer Ingelheim
Sponsor class: INDUSTRY
First posted: 2023-06-15
Enrollment: 12
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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).


Eligibility criteria: 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).

Primary outcomes:
measure: Severity of Netherton Syndrome (NS) assessed by the Ichthyosis Area Severity Index (IASI)
timeFrame: up to 1 year
Secondary outcomes:
measure: Severity Netherton Syndrome (NS) assessed by the Investigator Global Assessment (IGA)
timeFrame: up to 1 year
Other outcomes:
Locations:
city: Rancho Santa Margarita
country: United States
facility: Mission Dermatology Center
state: California
city: Chicago
country: United States
facility: Northwestern University
state: Illinois
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Roma
country: Italy
facility: Istituto Dermopatico Dell'Immacolata - IDI - IRCCS
Study officials:
References: