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

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 afect health-related quality of life in patients with Bardet–Biedl syndrome, and on how management of these symptoms may infuence dise...

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Detalles Bibliográficos
Autores: Forsythe, Elizabeth, Haws, Robert M., Argente Oliver, Jesús, Beales, Philip, Martos Moreno, Gabriel Ángel, Dollfus, Hélène, Chirila, Costel, Gnanasakthy, Ari, Buckley, Brieana C., Mallya, Usha G., Clément, Karine, Haqq, Andrea M.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad Autónoma de Madrid
Repositorio:Biblos-e Archivo. Repositorio Institucional de la UAM
Idioma:inglés
OAI Identifier:oai:repositorio.uam.es:10486/709300
Acceso en línea:http://hdl.handle.net/10486/709300
https://dx.doi.org/10.1186/s13023-022-02602-4
Access Level:acceso abierto
Palabra clave:BBS
genetic obesity
IWQOL-Lite
PedsQL
quality of life
setmelanotide
Medicina
Descripción
Sumario: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 afect health-related quality of life in patients with Bardet–Biedl syndrome, and on how management of these symptoms may infuence 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 identifer: 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 signifcantly 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