Repurposing Dupilumab for Management of Pruritic Genetic Inflammatory Skin Disorders: a Single-Site Pilot Study
Northwestern University
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 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.
Eligibility
- Age range
- 0+ years
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- DrugDupilumab
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.
Location
- Ann & Robert H. Lurie Children's Hospital of ChicagoChicago, Illinois