Netherton SyndromeNCT05902663
Natural History of Netherton Syndrome
An observational study of Netherton Syndrome, run by Boehringer Ingelheim at 4 sites in 2 countries.
Trial summary
The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Netherton Syndrome
- How many people
- 4 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 9 Oct 2024to 31 Mar 2025
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
- 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;
Show all 9Show fewer
- [Part 2] to participate in the longitudinal 52-week evaluation of disease severity and clinical outcome assessments.
- [for Part 2 only]
- Not participating in a clinical trial at the time of study enrolment for Part 2.
Who cannot join
- Patient who has died prior to 2002.
- Patient whose last known survival status is dated prior to 2002 (i.e., patient has been lost to clinical follow-up since 2002).
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
United States3 sites
Northwestern University
Chicago, Illinois, 60611
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Mission Dermatology Center
Rancho Santa Margarita, California, 92688
About this study
Official title: Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease
The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).
- Conditions
- Netherton Syndrome
- Medical subject headings
- Netherton Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
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.
Measured: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.
Secondary outcomes (1)
Severity of Netherton Syndrome (NS) Assessed by the Investigator Global Assessment (IGA)
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.
Measured: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jun 2023
- Study start9 Oct 2024
- Primary completion31 Mar 2025
- Study completion31 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Netherton SyndromeStudies of the same condition, open and under way.
- More trials run by Boehringer IngelheimThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boehringer Ingelheim
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05902663
- Sponsor's protocol ID
- 1368-0121
- Other IDs
- EUPAS103733
- Status last verified
- May 2026
- First submitted
- 24 May 2023
- Last updated
- 24 Jun 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Clinical studies sponsored by Boehringer Ingelheim, phases I to IV, interventional and non-interventional, are in scope for sharing of the raw clinical study data and clinical study documents. Exceptions might apply, e.g. studies in products where Boehringer Ingelheim is not the license holder; studies regarding pharmaceutical formulations and associated analytical methods, and studies pertinent to pharmacokinetics using human biomaterials; studies conducted in a single center or targeting rare diseases (in case of low number of patients and therefore limitations with anonymization). For more details refer to: https://www.mystudywindow.com/msw/datatransparency
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease
- ClinicalTrials.gov ID
- NCT05902663
- Acronym / sponsor ID
- 1368-0121
- Conditions
- Netherton Syndrome
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Boehringer IngelheimIndustry (pharma, biotech, devices)
- Study start
- 9 Oct 2024 (actual)
- Primary completion
- 31 Mar 2025 (actual)
- Study completion
- 31 Mar 2025 (actual)
- First posted
- 15 Jun 2023 (actual)
- Results
- Posted 24 Jun 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (9 listed)
- Confirmed diagnosis of NS by at least one of the following:
- Provision of consent or assent (i.e., by parent or legal guardian) as required by local regulations:
- [for Part 2 only]
- Not participating in a clinical trial at the time of study enrolment for Part 2.
Key exclusion criteria (2 listed)
- Patient who has died prior to 2002.
- Patient whose last known survival status is dated prior to 2002 (i.e., patient has been lost to clinical follow-up since 2002).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Time frame: 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.
1 secondary outcome
Severity of Netherton Syndrome (NS) Assessed by the Investigator Global Assessment (IGA)
Time frame: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No. Clinical studies sponsored by Boehringer Ingelheim, phases I to IV, interventional and non-interventional, are in scope for sharing of the raw clinical study data and clinical study documents. Exceptions might apply, e.g. studies in products where Boehringer Ingelheim is not the license holder; studies regarding pharmaceutical formulations and associated analytical methods, and studies pertinent to pharmacokinetics using human biomaterials; studies conducted in a single center or targeting rare diseases (in case of low number of patients and therefore limitations with anonymization). For more details refer to: https://www.mystudywindow.com/msw/datatransparency
Related trials for Netherton Syndrome
Active, not recruitingPhase 1
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725
Netherton Syndrome
RecruitingPhase 2/3
Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
Netherton Syndrome
RecruitingPhase 2/3
Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
Netherton Syndrome
RecruitingPhase 2/3
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome
Netherton Syndrome
RecruitingObservational study
Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome
Netherton Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Netherton Syndrome, run by Boehringer Ingelheim at 4 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 24 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 24 Jun 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: At enrolment, 2 weeks after enrolment and at 16 and 52 weeks of follow-up or death, whichever comes first.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2026.