Evidence map›Paper›PMID 36647077›Full record

Trial reportOrphanet journal of rare diseases2023

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

Elizabeth Forsythe, Robert M Haws, Jesús Argente, Philip Beales, Gabriel Á Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C Buckley, Usha G Mallya and 2 more

2 registry-linked trialsOpen access · goldAbstract readClinical Trial, Phase III
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 30 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 2 pooled it
11.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03746522 phase3completednot on this map

A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity

TypeinterventionalSponsorRhythm Pharmaceuticals, Inc.Ran2018 to 2021Enrolled52ConditionsBardet Biedl Syndrome (BBS), Alström Syndrome (AS)ArmsSetmelanotide, Placebo
NCT07674290 phase4recruitingnot on this map

Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study

TypeinterventionalSponsorTom HühneRan2023 to 2030Enrolled200ConditionsBardet Biedl Syndrome (BBS), Bardet Biedl Syndrome, Bardet-Biedl Syndrome (BBS), Alstrom SyndromeArmsSetmelanotide
3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Review
  5. Management of Childhood Obesity.International journal of molecular sciences · 2026
    Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025
    Review
  11. Review
  12. Article
  13. Article
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  15. Observational
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  19. Clinical variability ofBMJ case reports · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 8 institutions in 5 countries.

Elizabeth ForsytheGenetics and Genomics Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK.
Robert M HawsMarshfield Clinic Research Institute, Marshfield, WI, USA.
Jesús ArgenteDepartment of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid, University Hospital Niño Jesús, Madrid, Spain.
Philip BealesGenetics and Genomics Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK.
Gabriel Á Martos-MorenoDepartment of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid, University Hospital Niño Jesús, Madrid, Spain.
Hélène DollfusHôpitaux Universitaires de Strasbourg, CARGO and Department of Medical Genetics, Strasbourg, France.
Costel ChirilaRTI Health Solutions, Research Triangle Park, NC, USA.
Ari GnanasakthyRTI Health Solutions, Research Triangle Park, NC, USA.
Brieana C BuckleyRhythm Pharmaceuticals, Inc., Boston, MA, USA.
Usha G MallyaRhythm Pharmaceuticals, Inc., Boston, MA, USA.
Karine ClémentAssistance Publique-Hôpitaux de Paris, Nutrition Department, Pitié-Salpêtrière Hospital, Paris, France.
Andrea M HaqqDivision of Pediatric Endocrinology, University of Alberta, 6-002E Li Ka Shing Centre for Health Research Innovation, Edmonton, AB, T6G 2E1, Canada. haqq@ualberta.ca.ORCID 0000-0002-6256-4982
Genomics (United Kingdom) · GBInstituto de Salud Carlos III · ESJazz Pharmaceuticals (United States) · USTriangle · USHôpitaux Universitaires de Strasbourg · FRInserm · FRMarshfield Clinic · USUniversity of Alberta · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBardet-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).

methodsPatients 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.

resultsTwenty 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).

conclusionsAfter 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 .

Indexed as

Bardet-Biedl SyndromeQuality of LifeAdolescentAdultalpha-MSHChildHumansHyperphagiaObesityalpha-MSHsetmelanotideBBSGenetic obesityIWQOL-LitePedsQLQuality of lifeSetmelanotide

Identifiers

PMID36647077
PMCPMC9841937
OpenAlexW4316661795

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.