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Funding for this study was provided by Rhythm Pharmaceuticals, Inc.

Analysis of institutional authors

Argente JAuthorMartos-Moreno GaAuthor

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Clinical Trial

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

Publicated to:Orphanet Journal Of Rare Diseases. 18 (1): 12-12 - 2023-12-01 18(1), DOI: 10.1186/s13023-022-02602-4

Authors: Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GÁ, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clément K, Haqq AM

Affiliations

Assistance Publique-Hôpitaux de Paris, Nutrition Department, Pitié-Salpêtrière Hospital, Paris, France. - Author
CIBER "Fisiopatología de la Obesidad y Nutrición" (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain. - Author
Department of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid, University Hospital Niño Jesús, Madrid, Spain. - Author
Dept Med Genet, Strasbourg, France - Author
Division of Pediatric Endocrinology, University of Alberta, 6-002E Li Ka Shing Centre for Health Research Innovation, Edmonton, AB, T6G 2E1, Canada. haqq@ualberta.ca. - Author
Genetics and Genomics Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK. - Author
Hop La Pitie Salpetriere, Assistance Publ Hop Paris, Nutr Dept, Paris, France - Author
Hop Univ Strasbourg, CARGO, Strasbourg, France - Author
Hôpitaux Universitaires de Strasbourg, CARGO and Department of Medical Genetics, Strasbourg, France. - Author
IMDEA Food Inst, Madrid, Spain - Author
IMDEA Food Institute, Madrid, Spain. - Author
Inst Salud Carlos III, CIBER Fisiopatol Obes & Nutr CIBEROBN, Madrid, Spain - Author
Marshfield Clin Fdn Med Res & Educ, Res Inst, Marshfield, WI USA - Author
Marshfield Clinic Research Institute, Marshfield, WI, USA. - Author
Rhythm Pharmaceut Inc, Boston, MA USA - Author
Rhythm Pharmaceuticals, Inc., Boston, MA, USA. - Author
RTI Health Solutions, Research Triangle Park, NC, USA. - Author
RTI Hlth Solut, Res Triangle Pk, NC USA - Author
Sorbonne Univ, Nutri Res Unit, INSERM, Paris, France - Author
Sorbonne Université, INSERM, NutriOmics Research Unit, Paris, France. - Author
UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Programme, London, England - Author
Univ Alberta, Div Pediat Endocrinol, Li Ka Shing Ctr Hlth Res Innovat 6 002E, Edmonton, AB T6G 2E1, Canada - Author
Univ Autonoma Madrid, Univ Hosp Nino Jesus, Dept Pediat & Pediat Endocrinol, Madrid, Spain - Author
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Abstract

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).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.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).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 .© 2023. Rhythm Pharmaceuticals.

Keywords

burdengenetic obesityhyperphagiaiwqol-litepediatric obesitypedsqlpedsql(tm)-4.0preventionquality of lifereliabilitysetmelanotideBbsBody-mass indexGenetic obesityIwqol-litePedsqlQuality of lifeSetmelanotide

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Orphanet Journal Of Rare Diseases due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine (Miscellaneous).

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 22.93, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-28, the following number of citations:

  • WoS: 4
  • Scopus: 26

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-28:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 67.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 67 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 62.6.
  • The number of mentions on the social network X (formerly Twitter): 5 (Altmetric).
  • The number of mentions in news outlets: 9 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
  • Assignment of a Handle/URN as an identifier within the deposit in the Institutional Repository: http://hdl.handle.net/10486/709300

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Canada; France; United Kingdom; United States of America.