Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome.
Dauleh. Hajar H; Mohammed. Idris I; Hussain. Khalid K
Key Findings
- Semaglutide produced significant weight loss and better insulin sensitivity in a pediatric Bardet‑Biedl syndrome patient.
- The same drug also improved metabolic markers in a child with Alström syndrome.
- These results suggest GLP‑1 agonists can work in rare ciliopathies where leptin and insulin pathways are disrupted, offering a potentially cheaper alternative to setmelanotide.
Practical Outcomes
- For biohackers dealing with obesity or insulin resistance, especially when standard pathways seem impaired, semaglutide could be a viable off‑label option. Start at a low dose (e.g., 0.25 mg weekly) and titrate up while watching for gastrointestinal side effects and blood‑sugar changes. Always involve a healthcare professional for monitoring and dosing adjustments.
Summary
In two kids with rare genetic disorders that cause severe obesity and insulin resistance, the diabetes drug semaglutide (a GLP‑1 receptor agonist) led to big improvements in weight and blood‑sugar control. This hints that semaglutide might help people whose obesity stems from messed‑up leptin or insulin signaling, even if they don’t have the usual type‑2 diabetes.
Abstract
Bardet-Biedl syndrome (BBS) and Alström syndrome (AS) are rare autosomal recessive ciliopathies characterized by severe multisystemic involvement, including metabolic, sensory, and developmental impairments. Both conditions result from primary cilia dysfunction, disrupting pathways such as leptin and insulin signaling, which leads to obesity and insulin resistance. While setmelanotide, a melanocortin-4 receptor agonist, may be an effective therapy for obesity in these conditions (especially BBS), its cost limits accessibility for many patients. We describe two pediatric cases (one with BBS and another with AS) demonstrating significant metabolic improvements with semaglutide, a glucagon-like peptide-1 receptor agonist. These observations suggest that some cases of BBS and AS may be treated with semaglutide.
Study Information
pubmed
2025
2025-11-26T00:00:00.000Z
10.1210/jcemcr/luaf266
15