Sequential liraglutide and setmelanotide therapy in Bardet-Biedl Syndrome: metabolic and renal outcomes in a real-world case report and literature review
Abstract
Introduction: Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy characterized by multiple clinical features, including obesity and kidney disease. Therapeutic options remain limited. Setmelanotide, a melanocortin-4 receptor (MC4R) agonist, is approved for obesity in BBS, but real-world data in adults is scarce. This case highlights the synergistic metabolic and nephroprotective effects of a sequential therapeutic strategy combining a glucagon-like peptide-1 (GLP-1) receptor agonist and a MC4R agonist.
Case presentation: We report the case of a 37-year-old male with genetically confirmed BBS due to compound heterozygous likely pathogenic BBS10 variants presenting with obesity, insulin resistance, dyslipidemia, albuminuria and metabolic dysfunction-associated steatotic liver disease (MASLD). Treatment with liraglutide induced modest weight loss (-3.4%, BMI 35.2→34 kg/m²), improved urinary albumin-to-creatinine ratio (uACR) and liver enzymes levels within 8 months. Following discontinuation of liraglutide, setmelanotide therapy was subsequently initiated. After 12 months of treatment, the patient achieved a 10.5% weight loss compared with baseline (BMI 35.2→31.5 kg/m²), normalization of liver transaminases, reduced liver stiffness, and sustained improvement in uACR, while eGFR remained stable. Fasting insulin and HOMA-IR improved. Metformin, statin, and fenofibrate were discontinued, though fenofibrate was later reintroduced for hypertriglyceridemia. Two interventional…
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Metformin as an adjuvant in breast cancer treatment
- Metformin Lysosomal Targeting: A Novel Aspect to Be Investigated for Metformin Repurposing in Neurodegenerative Diseases?
- Aberrant HSF1 signaling activation underlies metformin amelioration of myocardial infarction in mice
- Metformin induces ZFP36 by mTORC1 inhibition in cervical cancer-derived cell lines
- Protein Interaction Network for Identifying Vascular Response of Metformin (Oral Antidiabetic)
- Preventing Long COVID With Metformin
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.