Trial Outcomes & Findings for Natural History of Netherton Syndrome (NCT NCT05902663)

Last Updated: 2026-06-24

Results Overview

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.

Recruitment status

TERMINATED

Target enrollment

4 participants

Primary outcome timeframe

At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.

Results posted on

2026-06-24

Participant Flow

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.

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.

Participant milestones

Participant milestones
Measure	Patients Diagnosed With Netherton Syndrome All identified participants who were diagnosed and treated for NS in routine clinical practice formed the base cohort for the study. Only participants who met the eligibility criteria were enrolled.
Overall Study STARTED	4
Overall Study Part 2	0
Overall Study COMPLETED	0
Overall Study NOT COMPLETED	4

Reasons for withdrawal

Reasons for withdrawal
Measure	Patients Diagnosed With Netherton Syndrome All identified participants who were diagnosed and treated for NS in routine clinical practice formed the base cohort for the study. Only participants who met the eligibility criteria were enrolled.
Overall Study Study termination by sponsor	4

Baseline Characteristics

Natural History of Netherton Syndrome

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Patients Diagnosed With Netherton Syndrome n=4 Participants All identified participants who were diagnosed and treated for NS in routine clinical practice formed the base cohort for the study. Only participants who met the eligibility criteria were enrolled.
Age, Continuous	32.14 Years STANDARD_DEVIATION 22.11 • n=20 Participants
Sex: Female, Male Female	1 Participants n=20 Participants
Sex: Female, Male Male	3 Participants n=20 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	0 Participants n=20 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	4 Participants n=20 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=20 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=20 Participants
Race (NIH/OMB) Asian	1 Participants n=20 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=20 Participants
Race (NIH/OMB) Black or African American	0 Participants n=20 Participants
Race (NIH/OMB) White	2 Participants n=20 Participants
Race (NIH/OMB) More than one race	1 Participants n=20 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=20 Participants

PRIMARY outcome

Timeframe: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.

Population: This outcome measure was intended to be assessed during Part 2 using prospective data collection. No participants were however enrolled in Part 2 and no data were accordingly collected.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.

Population: This outcome measure was intended to be assessed during Part 2 using prospective data collection. No participants were however enrolled in Part 2 and no data were accordingly collected.

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.

Outcome measures

Outcome data not reported

Adverse Events

Patients Diagnosed With Netherton Syndrome

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Boehringer Ingelheim, Call Center

Boehringer Ingelheim

Phone: 1-800-243-0127

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee Boehringer Ingelheim (BI) acknowledges that investigators have the right to publish the study results. Investigators shall provide BI with a copy of any publication or presentation for review prior to any submission. Such review will be done with regard to proprietary information, information related to patentable inventions, medical, scientific, and statistical accuracy within 60 days. BI may request a delay of the publication in order to protect BI's intellectual property rights.
Publication restrictions are in place

Restriction type: OTHER