Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome.

This research study looked at using a medication called semaglutide to help two children - one with Bardet-Biedl syndrome and one with Alström syndrome (a related condition). Both of these rare genetic conditions cause problems with weight gain and insulin resistance (where the body doesn't respond well to insulin), among other health issues. The researchers found that semaglutide, which is a medication already used to treat diabetes and obesity in adults, helped improve the metabolic health (blood sugar control and weight management) in both children. This is significant because while there is another medication called setmelanotide that can help with obesity in these conditions, it's very expensive and many families can't afford it. The findings suggest that semaglutide might be a more accessible treatment option for managing weight and blood sugar problems in children with Bardet-Biedl syndrome. However, this is based on just two patients, so larger studies would be needed to confirm how well this medication works for children with these conditions. This could potentially offer families a more affordable way to help manage some of the challenging symptoms of these rare syndromes.

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.