Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period
Open accessAbstract
Background Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity. We aimed to evaluate the effect of setmelanotide on bodyweight in these patients.Methods This multicentre, randomised, 14-week double-blind, placebo-controlled, phase 3 trial followed by a 52-week open-label period, was performed at 12 sites (hospitals, clinics, and universities) in the USA, Canada, the UK, France, and Spain. Patients aged 6 years or older were included if they had a clinical diagnosis of Bardet-Biedl syndrome or Alström syndrome and obesity (defined as BMI >97th percentile for age and sex for those aged 6-15 years and ≥30 kg/m 2 for those aged ≥16 years). Patients were randomly assigned (1:1) using a numerical randomisation code to receive up to 3·0 mg of subcutaneous setmelanotide or placebo once per day during the 14-week double-blind period, followed by open-label setmelanotide for 52 weeks. The primary endpoint, measured in the full analysis set, was the proportion of patients aged 12 years or older who reached at least a 10% reduction in bodyweight from baseline after 52 weeks of setmelanotide treatment. This study is registered with ClinicalTrials.gov, NCT03746522.Findings Between Dec 10, 2018, and Nov 25, 2019, 38 patients were enrolled and randomly assigned to receive setmelanotide (n=19) or placebo (n=19; 16 with Bardet-Biedl syndrome and three with Alström syndrome in each group). In terms of the primary endpoint, 32·3% (95% CI 16·7 to 51·4; p=0·0006) of patients aged 12 years or older with Bardet-Biedl syndrome reached at least a 10% reduction in bodyweight after 52 weeks of setmelanotide. The most commonly reported treatment-emergent adverse events were skin hyperpigmentation (23 [61%] of 38) and injection site erythema (18 [48%]). Two patients had four serious adverse events (blindness, anaphylactic reaction, and suicidal ideation); none were considered related to setmelanotide treatment.Interpretation Setmelanotide resulted in significant bodyweight reductions in patients with Bardet-Biedl syndrome; however, these results were inconclusive in patients with Alström syndrome. These results support the use of setmelanotide and provided the necessary evidence for approval of this drug as the first treatment for obesity in patients with Bardet-Biedl syndrome.Funding Rhythm Pharmaceuticals.
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Setmelanotide can be used in older adults with monogenic obesity caused by mutations in the leptin signalling pathway.
“Finally, setmelanotide can be used in older adults with monogenic obesity, caused by mutations in the leptin signalling pathway, although this is more commonly initiated in children and younger adults with severe and complex obesity [122].”
From Obesity pharmacotherapy in older adults: a narrative review of evidence (2025) · cites this paper as [122]
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Nutrient-Stimulating Hormone-Based Therapies for Obesity
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Genetic Landscape of Obesity in Children: Research Advances and Prospects
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Pharmacotherapy for Obesity: Recent Updates
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A diagnostic conundrum in Bardet–Biedl syndrome: when genetic diagnosis precedes clinical diagnosis
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The management of hypothalamic obesity in craniopharyngioma
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CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology
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Polymorphism of Melanocortin Receptor Genes—Association with Inflammatory Traits and Diseases
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Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review
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Self-citationObesity and emerging intervention strategies: Mechanistic insights and novel drug targets
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Synthetic strategies and therapeutic insights into FDA-approved indole-containing drugs
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The genetics of obesity: aetiology, prevention and therapy
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Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review
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Clinician’s Guide for Pediatric Anti-obesity Medications
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Obesity and its treatment: Toward new approaches
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Self-citationPOMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function
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Current and Emerging Parenteral and Peroral Medications for Weight Loss: A Narrative Review
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Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome
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Setmelanotide-mediated MC4R activation improves hypothalamic obesity via CaMKK2/AMPK pathways
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Current pharmacotherapy options in pediatric obesity
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Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes
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Obesity Medications and Their Impact on Cardiovascular Health: A Narrative Review
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A new era in childhood obesity
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Weight Management in a Patient With Smith-Magenis Syndrome: The Role of GLP-1 Receptor Agonists
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Weight Loss Effect of Lisdexamfetamine in Children with Severe Obesity: A Case Series
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- Authors
- Haqq, A. M., Chung, W. K., Dollfus, H., Haws, R. M., Martos-Moreno, G. Á., Poitou, C., Yanovski, J. A., Mittleman, R. S., Yuan, G., Forsythe, E., Clément, K., & Argente, J.
- Affiliations
- University of Alberta (CA)
- Columbia University (US)
- Hôpitaux Universitaires de Strasbourg (FR)
- Marshfield Clinic Research Foundation (US)
- Inserm (FR)
- National Institutes of Health (US)
- Rhythm (United states) (US)
- University College London (GB)
- Corresponding author
- Argente, Jesús
- ORCID
- Venue
- The Lancet Diabetes & Endocrinology
- Publisher
- Elsevier BV
- Published
- 2022-12
- Volume
- 10
- Issue
- 12
- Pages
- 859-868
- ISSN
- 2213-8587 (ISSN-L)
- PMC
- PMC9847480
- OpenAlex
- W4308426407
- Cited by
- 206
- References
- 26
- Citations by year
- 2026: 55 · 2025: 62 · 2024: 58 · 2023: 29 · 2022: 1 · 2012: 1
- FWCI
- 22.61
- Type
- journal article
- Language
- en
- Update notices
- erratum (2023-02-01)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Lancet Diabetes & Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Funders
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (ZIAHD000641)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pharmacology › Pharmacology and Obesity Treatment
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Keywords
- setmelanotide, Bardet-Biedl syndrome, Alström syndrome, melanocortin-4 receptor agonist, early-onset obesity, hyperphagia, weight loss, rare genetic disorders, drug safety, adverse events, children and adolescents, adults, open-label extension, treatment discontinuation
- MeSH terms
- alpha-MSH, Humans, Obesity, Treatment Outcome, Bardet-Biedl Syndrome, Receptor, Melanocortin, Type 4, Alstrom Syndrome
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