The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
Abstract Background CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) disease is a newly identified condition with an estimated worldwide prevalence of < 100 patients. Patient interviews can ensure that what is important to patien...
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BMC
2025-02-01
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| Online Access: | https://doi.org/10.1186/s13023-024-03436-y |
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| author | Leighann Litcher-Kelly Ahmet Ozen Sarah Ollis Hagit Baris Feldman Andrew Yaworsky Paolo Medrano Voranush Chongsrisawat Lorah Perlee Marisa Walker Sharanya Pradeep Diane M. Turner-Bowker Alina Kurolap Orly Eshach Adiv Michael J. Lenardo Olivier A. Harari Jessica J. Jalbert |
| author_facet | Leighann Litcher-Kelly Ahmet Ozen Sarah Ollis Hagit Baris Feldman Andrew Yaworsky Paolo Medrano Voranush Chongsrisawat Lorah Perlee Marisa Walker Sharanya Pradeep Diane M. Turner-Bowker Alina Kurolap Orly Eshach Adiv Michael J. Lenardo Olivier A. Harari Jessica J. Jalbert |
| author_sort | Leighann Litcher-Kelly |
| collection | DOAJ |
| description | Abstract Background CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) disease is a newly identified condition with an estimated worldwide prevalence of < 100 patients. Patient interviews can ensure that what is important to patients is assessed in a clinical trial program. Due to the rare and potentially fatal nature of CHAPLE disease, interviews were conducted as part of the pozelimab clinical trial, rather than in a separate study before the trial. The aim of the interviews was to identify the key disease-related signs, symptoms, and health-related quality-of-life (HRQoL) impacts that are important and relevant to patients with CHAPLE disease. Methods Interviews were conducted with patients and/or caregivers at two timepoints (screening and Week 24) during the pozelimab trial to document the signs/symptoms and HRQoL impacts of CHAPLE disease, and document the most bothersome sign/symptom at screening. At Week 24, interviews gathered additional information on the patient experience from caregivers and patients (note: the impact of pozelimab treatment was also collected, though these results are presented elsewhere). Results Ten patients, aged 3–19 years, were enrolled in the trial; caregivers contributed to nine interviews. Thirty-one signs/symptoms and 65 HRQoL impacts were reported during the interviews. Abdominal pain, diarrhea, facial and peripheral edema/swelling, nausea, and vomiting emerged as the core signs/symptoms of CHAPLE disease (i.e., experienced by ≥ 90% of patients prior to treatment). The remaining 25 signs/symptoms were experienced by four or fewer (n ≤ 4, ≤ 40.0%) patients, and 15 were only reported by one patient each. Abdominal pain and facial edema were reported as the most bothersome signs/symptoms (n = 9, 90.0% and n = 1, 10.0%, respectively). The most frequently reported (i.e., ≥ 80% of interviews) HRQoL impacts were restricted diet (n = 10, 100.0%), sleep disruptions (n = 10, 100.0%), missing school (n = 9, 90.0%), ability to get dressed independently (n = 8, 80.0%), and difficulty engaging in play activities (n = 8, 80.0%). Conclusions The main finding from these patient interviews is the identification of six core signs/symptoms of CHAPLE disease: abdominal pain, diarrhea, facial edema/swelling, peripheral edema/swelling, nausea, and vomiting. The severity of the core signs/symptoms leads to substantial impacts on patients’ lives. Trial registration ClinicalTrials.gov, NCT04209634. Registered 20 December 2019 https://classic.clinicaltrials.gov/ct2/show/NCT04209634 . |
| format | Article |
| id | doaj-art-e5e8d52a4f624c01aea0787b5382e8f7 |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
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| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-e5e8d52a4f624c01aea0787b5382e8f72025-08-20T03:01:00ZengBMCOrphanet Journal of Rare Diseases1750-11722025-02-012011910.1186/s13023-024-03436-yThe patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare conditionLeighann Litcher-Kelly0Ahmet Ozen1Sarah Ollis2Hagit Baris Feldman3Andrew Yaworsky4Paolo Medrano5Voranush Chongsrisawat6Lorah Perlee7Marisa Walker8Sharanya Pradeep9Diane M. Turner-Bowker10Alina Kurolap11Orly Eshach Adiv12Michael J. Lenardo13Olivier A. Harari14Jessica J. Jalbert15Adelphi ValuesMarmara UniversityAdelphi ValuesTel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv UniversityAdelphi ValuesAdelphi ValuesDepartment of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, Thai Red Cross SocietyRegeneron Pharmaceuticals, Inc.Adelphi ValuesAdelphi ValuesAdelphi ValuesThe Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical CenterHead of Pediatric Gastroenterology and Nutrition Unit, “Hillel Yaffe” Medical CenterMolecular Development of the Immune System Section, Laboratory of Immune System Biology, Laboratory of Clinical Immunology and Microbiology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of HealthRegeneron Pharmaceuticals, Inc.Regeneron Pharmaceuticals, Inc.Abstract Background CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) disease is a newly identified condition with an estimated worldwide prevalence of < 100 patients. Patient interviews can ensure that what is important to patients is assessed in a clinical trial program. Due to the rare and potentially fatal nature of CHAPLE disease, interviews were conducted as part of the pozelimab clinical trial, rather than in a separate study before the trial. The aim of the interviews was to identify the key disease-related signs, symptoms, and health-related quality-of-life (HRQoL) impacts that are important and relevant to patients with CHAPLE disease. Methods Interviews were conducted with patients and/or caregivers at two timepoints (screening and Week 24) during the pozelimab trial to document the signs/symptoms and HRQoL impacts of CHAPLE disease, and document the most bothersome sign/symptom at screening. At Week 24, interviews gathered additional information on the patient experience from caregivers and patients (note: the impact of pozelimab treatment was also collected, though these results are presented elsewhere). Results Ten patients, aged 3–19 years, were enrolled in the trial; caregivers contributed to nine interviews. Thirty-one signs/symptoms and 65 HRQoL impacts were reported during the interviews. Abdominal pain, diarrhea, facial and peripheral edema/swelling, nausea, and vomiting emerged as the core signs/symptoms of CHAPLE disease (i.e., experienced by ≥ 90% of patients prior to treatment). The remaining 25 signs/symptoms were experienced by four or fewer (n ≤ 4, ≤ 40.0%) patients, and 15 were only reported by one patient each. Abdominal pain and facial edema were reported as the most bothersome signs/symptoms (n = 9, 90.0% and n = 1, 10.0%, respectively). The most frequently reported (i.e., ≥ 80% of interviews) HRQoL impacts were restricted diet (n = 10, 100.0%), sleep disruptions (n = 10, 100.0%), missing school (n = 9, 90.0%), ability to get dressed independently (n = 8, 80.0%), and difficulty engaging in play activities (n = 8, 80.0%). Conclusions The main finding from these patient interviews is the identification of six core signs/symptoms of CHAPLE disease: abdominal pain, diarrhea, facial edema/swelling, peripheral edema/swelling, nausea, and vomiting. The severity of the core signs/symptoms leads to substantial impacts on patients’ lives. Trial registration ClinicalTrials.gov, NCT04209634. Registered 20 December 2019 https://classic.clinicaltrials.gov/ct2/show/NCT04209634 .https://doi.org/10.1186/s13023-024-03436-yCHAPLEWithin-trial interviewsPozelimabHRQoL |
| spellingShingle | Leighann Litcher-Kelly Ahmet Ozen Sarah Ollis Hagit Baris Feldman Andrew Yaworsky Paolo Medrano Voranush Chongsrisawat Lorah Perlee Marisa Walker Sharanya Pradeep Diane M. Turner-Bowker Alina Kurolap Orly Eshach Adiv Michael J. Lenardo Olivier A. Harari Jessica J. Jalbert The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition Orphanet Journal of Rare Diseases CHAPLE Within-trial interviews Pozelimab HRQoL |
| title | The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition |
| title_full | The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition |
| title_fullStr | The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition |
| title_full_unstemmed | The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition |
| title_short | The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition |
| title_sort | patient experience of chaple disease results from interviews conducted as part of a clinical trial for an ultra rare condition |
| topic | CHAPLE Within-trial interviews Pozelimab HRQoL |
| url | https://doi.org/10.1186/s13023-024-03436-y |
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