Abstract
Abstract
Background
CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) disease is ultra-rare (< 100 children or young adults worldwide) and potentially fatal. The study used mixed-methods approaches to assess how pozelimab impacts the signs and symptoms of CHAPLE disease from the patient perspective by combining within-trial interviews and clinical outcome assessments (COAs) (ClinicalTrials.gov, NCT04209634).
Methods
Interviews conducted with patients/caregivers at screening and week 24 assessed the signs and symptoms of CHAPLE disease, including those which were most bothersome, and evaluated the change. Patients/caregivers and clinicians completed the COAs; interview data contextualized the meaningfulness of change.
Results
Ten patients (aged 3–19 years) were enrolled; caregivers contributed to nine interviews. Abdominal pain, diarrhea, facial and peripheral edema, nausea, and vomiting are the core signs and symptoms of CHAPLE disease (≥ 90% patients experienced pre-treatment); the most bothersome signs and symptoms were abdominal pain (n = 9) and facial edema (n = 1). All core signs and symptoms were reported as resolved at week 24 interviews. Severity on global assessments changed from “mild” to “very severe” at baseline to “no signs or symptoms” at week 24. Interview results were generally consistent with sign- or symptom-specific COA scores.
Conclusions
Patients with CHAPLE disease treated with pozelimab for 24 weeks experienced complete resolution of core signs and symptoms. Mixed-methods approaches can contextualize the patient experience (how patients feel and function) in rare disease trials.
Trial registration
Clinicaltrials.gov, NCT04209634, registered December 24, 2019, https://classic.clinicaltrials.gov/ct2/show/NCT04209634.
Funder
Regeneron Pharmaceuticals
Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health
Publisher
Springer Science and Business Media LLC
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