Can an existing drug calm the itch of rare genetic skin diseases?
NCT ID NCT05649098
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This early-phase study is testing whether dupilumab, a drug already used for eczema, can reduce severe itching in people with various genetic skin disorders. The trial will enroll 30 participants and last 26 months, including a 16-week treatment period and a longer extension phase. The main goal is to see if itch scores improve significantly.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- dupilumab
- What this could lead to
- If it works, this could point toward a new way to ease severe itching in hard-to-treat genetic skin conditions.
- What could go wrong
- This is a very early, small pilot study with only 30 people. It may not show clear benefit, and side effects are possible.
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.
- Phase
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Early phase 1
The earliest testing in people: a first look at safety, in a very small group.
- Participants
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About 30 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jun 2023
- Expected to finish
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Jun 2032
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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6 months and older
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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: 1. Male or female \> 6 months of age at screening visit 2. Clinical diagnosis of a genetic skin disorder at the screening visit, ideally with genetic or histological confirmation. 3. 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. 4. 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) 5. 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). 6. Must be willing and able to adhere to the prohibitions and restrictions specified in this protocol. 7. Subject, parent/caregiver or legal guardians, as appropriate, are able to understand and complete the study requirements and study-related questionnaires Exclusion Criteria: 1. Subjects \< 6 months of age at screening visit. 2. Unable to provide informed consent or assent (or who do not have consent from a Legally Authorized Representative if \< 18 years). 3. Diagnosis of ichthyosis vulgaris as the sole inherited disorder 4. Used of dupilumab within 5 drug half-lives (105 days) of baseline visit 5. 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: 1. Immunosuppressive/immunomodulating drugs (eg, systemic corticosteroids, cyclosporine, mycophenolate-mofetil, IFN-γ, Janus kinase inhibitors, azathioprine, methotrexate, etc.), systemic anti-inflammatory medication, or phototherapy 2. Other biologics: within 5 half-lives (if known) or 16 weeks, whichever is longer 6. 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. 7. 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. 8. 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. 9. 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Ann & Robert H. Lurie Children's Hospital of Chicago
RECRUITINGChicago, Illinois, 60611, United States
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