Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results - Sorbonne Université Access content directly
Journal Articles Orphanet Journal of Rare Diseases Year : 2023

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Elizabeth Forsythe
  • Function : Author
Robert Haws
  • Function : Author
Jesús Argente
  • Function : Author
Philip Beales
  • Function : Author
Gabriel Á. Martos-Moreno
  • Function : Author
Hélène Dollfus
  • Function : Author
Costel Chirila
  • Function : Author
Ari Gnanasakthy
  • Function : Author
Brieana Buckley
  • Function : Author
Usha Mallya
  • Function : Author
Andrea Haqq

Abstract

Abstract Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet–Biedl syndrome, and on how management of these symptoms may influence disease burden. This analysis evaluated changes in health-related quality of life in adults and children with Bardet–Biedl syndrome in a Phase 3 trial following 1 year of setmelanotide treatment (ClinicalTrials.gov identifier: NCT03746522). Methods Patients with Bardet–Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures. Patients aged < 18 years or their caregiver completed the Pediatric Quality of Life Inventory (PedsQL; meaningful improvement, 4.4-point change); adults aged ≥ 18 years completed the Impact of Weight on Quality of Life Questionnaire-Lite (IWQOL-Lite; meaningful improvement range, 7.7–12-point change). Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment. Results Twenty patients (< 18 years, n = 9; ≥ 18 years, n = 11) reported health-related quality of life at baseline and 52 weeks. For children and adolescents, PedsQL score mean change from baseline after 52 weeks was + 11.2; all patients with PedsQL impairment at baseline (n = 4) experienced clinically meaningful improvement. In adults, IWQOL-Lite score mean change from baseline was + 12.0. Of adults with IWQOL-Lite impairment at baseline (n = 8), 62.5% experienced clinically meaningful improvement. In adults, IWQOL-Lite score was significantly correlated with changes in percent body weight ( P = 0.0037) and body mass index ( P = 0.0098). Conclusions After 1 year of setmelanotide, patients reported clinically meaningful improvements across multiple health-related quality of life measures. This study highlights the need to address the impaired health-related quality of life in Bardet–Biedl syndrome, and supports utility of setmelanotide for reducing this burden. Trial Registration NCT03746522. Registered November 19, 2018, https://clinicaltrials.gov/ct2/show/NCT03746522 .
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Dates and versions

hal-04153550 , version 1 (06-07-2023)

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Elizabeth Forsythe, Robert Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, et al.. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results. Orphanet Journal of Rare Diseases, 2023, 18 (1), pp.12. ⟨10.1186/s13023-022-02602-4⟩. ⟨hal-04153550⟩
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