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Rare skin disease study seeks to understand netherton syndrome

NCT ID NCT05902663

Knowledge-focused Sponsor: Boehringer Ingelheim Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early This study
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aimed to collect real-world data on Netherton Syndrome, a rare genetic skin disorder. Researchers planned to follow 4 participants over 52 weeks, measuring skin severity and other symptoms. The study was terminated early, so results are limited.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

4 people

The number who actually took part.

Started

Oct 2024

Finished

Mar 2025

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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).

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Conditions

The condition(s) this trial relates to.

Netherton syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Netherton syndrome

Contacts and locations

Locations

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Istituto Dermopatico Dell'Immacolata - IDI - IRCCS

    Roma, 00167, Italy

  • Mission Dermatology Center

    Rancho Santa Margarita, California, 92688, United States

  • Northwestern University

    Chicago, Illinois, 60611, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.