Skin DiseasesEarly Phase 1NCT05649098
Repurposing Dupilumab for Management of Pruritic Genetic Inflammatory Skin Disorders
A Early Phase 1 study testing Dupilumab in people with Skin Diseases, run by Northwestern University at 1 site in United States.
Trial summary
Severe itch is a common symptom of many genetic skin disorders and leads to a negative impact on patient quality of life. The investigators hypothesize that: a) intervention with dupilumab will improve itch in patients with pruritic genetic inflammatory skin disorders, even those not recognized to be Th2-driven; and… Read more about this study
- Who is it for?
- Ages 6 months and older
- Conditions the study is for
- Skin Diseases
- What is being tested?
- Dupilumab
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Jun 2023to 1 Jun 2032
- Phase
- Early Phase 1
- Are there results?
- Not yet: the study is under way
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 6 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Male or female > 6 months of age at screening visit
- Clinical diagnosis of a genetic skin disorder at the screening visit, ideally with genetic or histological confirmation.
- Must have had the gene with one or more variants identified by genotyping. If the genotype has not been performed or has not been performed at a CLIA-approved laboratory, be willing to provide a sample (saliva, buccal swab, blood) for genetic testing before starting the dupilumab.
- Average Itch Numerical Rating Scale (NRS) ≥ 4 and Worst Itch NRS of at least 5 during the previous 7 days (self-reported if >8 years old; proxy reported if under 8 years)
- Must be willing to provide information weekly about Average and Worst Itch/self- or proxy-assessed severity and wear the sensor device to track itch and sleep weekly throughout the first 24 weeks of the trial (Parts A and B).
- Must be willing and able to adhere to the prohibitions and restrictions specified in this protocol.
- Subject, parent/caregiver or legal guardians, as appropriate, are able to understand and complete the study requirements and study-related questionnaires
Who cannot join
- Subjects < 6 months of age at screening visit.
- Unable to provide informed consent or assent (or who do not have consent from a Legally Authorized Representative if < 18 years).
- Diagnosis of ichthyosis vulgaris as the sole inherited disorder
- Used of dupilumab within 5 drug half-lives (105 days) of baseline visit
- Subjects who have used any of the following treatments within 4 weeks, or within a period equal to 5 times the half-life of the drug, before the baseline visit, whichever is longer:
- Immunosuppressive/immunomodulating drugs (eg, systemic corticosteroids, cyclosporine, mycophenolate-mofetil, IFN-γ, Janus kinase inhibitors, azathioprine, methotrexate, etc.), systemic anti-inflammatory medication, or phototherapy
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- Other biologics: within 5 half-lives (if known) or 16 weeks, whichever is longer
- Initiation of topical or systemic retinoids, topical keratolytics, or topical anti-inflammatory agents within 4 weeks before study start/Part A (systemic retinoids and topical medications/emollients can be used during the trial if started at least 4 wks before the observation period and continued throughout Parts A and B). Note: Rescue therapy for disease flares or local infection will be allowed per investigator discretion but must be for no more than a total of 1 week during any 4-week period and, if topical, involve application to less than 10% BSA.
- Subjects with active infections or recent history of serious infections, malignancies or history of malignancies, or any severe, progressive, or uncontrolled renal, hepatic, hematologic, endocrine, pulmonary, cardiac, neurologic or psychiatric cerebral disease, or signs or symptoms thereof. It is recognized that patients with ichthyosis may have arthritis, while patients with junctional or dystrophic EB may have a variety of associated issues (eg nutritional, anemia, etc). The decision to include will be based on investigator's discretion but must reflect the likelihood for stable disease and lack of anticipated interference with assessment of itch.
- Treatment with a live (attenuated) vaccine within 4 weeks before the Week 0 visit when dupilumab is initiated; use of vaccination during the study requires consultation with the study investigator and primary care provider.
- Active acute or chronic infection requiring treatment with systemic antibiotics/ anti-virals/ anti-fungals within 2 weeks before the initiation of dupilumab (start of dupilumab can be delayed). Delay in initiation because of treatment with a topical antimicrobial to a localized superficial site will be determined by the investigator.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Dermatology CTU, NUderm-research@northwestern.edu
Amy Paller
About this study
Official title: Repurposing Dupilumab for Management of Pruritic Genetic Inflammatory Skin Disorders: a Single-Site Pilot Study
Severe itch is a common symptom of many genetic skin disorders and leads to a negative impact on patient quality of life. The investigators hypothesize that: a) intervention with dupilumab will improve itch in patients with pruritic genetic inflammatory skin disorders, even those not recognized to be Th2-driven; and b) the administration of dupilumab will be well-tolerated, regardless of underlying genetic skin disorder. The total clinical study duration will be 26 months (104 Weeks). The treatment period will include a 16-week open-label phase and a 20-month long-term extension phase for those who qualify and wish to continue.
- Conditions
- Skin Diseases
- Being tested
- Dupilumab
- Keywords
- Itch, Pruritus, epidermolysis bullosa, ichthyosis, genetic skin disorders
- Medical subject headings
- Skin Diseases, Pruritus, Epidermolysis Bullosa, Ichthyosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DupilumabDrug
The treatment period will include a 16-week open-label phase and a 20-month long-term extension phase for those who qualify and wish to continue.
| Study group | Role | What they receive |
|---|---|---|
| Open-Label Dupilumab | Experimental | Not described Receives: Drug: Dupilumab |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Itch
The Primary Objective of this study is to determine if dupilumab changes itch across a range of pruritic genetic disorders of the skin.
At least 50% of patients achieving reduction by at least 2 points in Worst Itch NRS (minimal meaningful reduction in Worst Itch is 1-2 points)
We will compare the average Worst Itch NRS during an 8-week observational period (not a static single point) with the average Worst Itch NRS during the dupilumab treatment period at Weeks 9-16 on dupilumab (by which time itch is maximally suppressed by dupilumab in atopic dermatitis trials). This will allow for the possibility of fluctuation in itch (which we also hope to capture in the Part A observation period).
Measured: 16 weeks
Secondary outcomes (1)
Occurrence of Adverse Events during Dupilumab Treatment
Number of adverse events (AEs) and serious AEs (SAEs) through Weeks 16, 52, and 104.
Measured: 104 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Dec 2022
- Study start12 Jun 2023
- Primary completion30 Jun 2031 (estimated)
- Study completion1 Jun 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Skin DiseasesStudies of the same condition, open and under way.
- More trials run by Northwestern UniversityThe 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
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Northwestern University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Amy Paller, Northwestern University
- Investigators
- Amy Paller, Principal investigator, Northwestern University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05649098
- Sponsor's protocol ID
- 2023-5803
- Status last verified
- Apr 2026
- First submitted
- 5 Dec 2022
- Last updated
- 1 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Repurposing Dupilumab for Management of Pruritic Genetic Inflammatory Skin Disorders: a Single-Site Pilot Study
- ClinicalTrials.gov ID
- NCT05649098
- Acronym / sponsor ID
- 2023-5803
- Conditions
- Skin Diseases
- Keywords
- Itch, Pruritus, epidermolysis bullosa, ichthyosis, genetic skin disorders
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Northwestern UniversityUniversity, hospital or other
- Study start
- 12 Jun 2023 (actual)
- Primary completion
- 30 Jun 2031 (estimated)
- Study completion
- 1 Jun 2032 (estimated)
- First posted
- 13 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Severe itch is a common symptom of many genetic skin disorders and leads to a negative impact on patient quality of life. The investigators hypothesize that: a) intervention with dupilumab will improve itch in patients with pruritic genetic inflammatory skin disorders, even those not recognized to be Th2-driven; and b) the administration of dupilumab will be well-tolerated, regardless of underlying genetic skin disorder. The total clinical study duration will be 26 months (104 Weeks). The treatment period will include a 16-week open-label phase and a 20-month long-term extension phase for those who qualify and wish to continue.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open-Label Dupilumab | Experimental | Drug: Dupilumab |
Who may qualify
- Ages
- 6 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Male or female > 6 months of age at screening visit
- Clinical diagnosis of a genetic skin disorder at the screening visit, ideally with genetic or histological confirmation.
- Must have had the gene with one or more variants identified by genotyping. If the genotype has not been performed or has not been performed at a CLIA-approved laboratory, be willing to provide a sample (saliva, buccal swab, blood) for genetic testing before starting the dupilumab.
- Average Itch Numerical Rating Scale (NRS) ≥ 4 and Worst Itch NRS of at least 5 during the previous 7 days (self-reported if >8 years old; proxy reported if under 8 years)
- Must be willing to provide information weekly about Average and Worst Itch/self- or proxy-assessed severity and wear the sensor device to track itch and sleep weekly throughout the first 24 weeks of the trial (Parts A and B).
Key exclusion criteria (11 listed)
- Subjects < 6 months of age at screening visit.
- Unable to provide informed consent or assent (or who do not have consent from a Legally Authorized Representative if < 18 years).
- Diagnosis of ichthyosis vulgaris as the sole inherited disorder
- Used of dupilumab within 5 drug half-lives (105 days) of baseline visit
- Subjects who have used any of the following treatments within 4 weeks, or within a period equal to 5 times the half-life of the drug, before the baseline visit, whichever is longer:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DupilumabThe treatment period will include a 16-week open-label phase and a 20-month long-term extension phase for those who qualify and wish to continue. | Drug | Open-Label Dupilumab |
Primary outcome
Change in Itch
Time frame: 16 weeks
The Primary Objective of this study is to determine if dupilumab changes itch across a range of pruritic genetic disorders of the skin. At least 50% of patients achieving reduction by at least 2 points in Worst Itch NRS (minimal meaningful reduction in Worst Itch is 1-2 points) We will compare the average Worst Itch NRS during an 8-week observational period (not a static single point) with the average Worst Itch NRS during the dupilumab treatment period at Weeks 9-16 on dupilumab (by which time itch is maximally suppressed by dupilumab in atopic dermatitis trials). This will allow for the possibility of fluctuation in itch (which we also hope to capture in the Part A observation period).
1 secondary outcome
Occurrence of Adverse Events during Dupilumab Treatment
Time frame: 104 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 May 2026.
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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.
Amy Paller principal investigator
Northwestern University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing Dupilumab in people with Skin Diseases, run by Northwestern University at 1 site in United States.
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 7 inclusion and 11 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: looking for participants now, as of the sponsor's last update on 1 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Northwestern Dermatology CTU (312-227-6817, NUderm-research@northwestern.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Itch (time frame: 16 weeks). 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 1 May 2026.