Endocrine Abstracts

Background: ALMS1 is a 461kDa protein that, when mutated, causes Alström syndrome (AS). AS is a rare autosomal recessive disorder characterized by childhood obesity and early-onset insulin-resistant diabetes, amongst other features. Studies using primary human adipocytes revealed that ALMS1 is critical for insulin-regulated glucose transport. The predilection for insulin resistance and T2DM in AS children seems to reflect a hitherto uncharacterized role of ALMS1 in the in...

Background: Bardet-Biedl Syndrome (BBS) is a rare genetic disease in which impaired melanocortin-4 receptor (MC4R) signaling leads to hyperphagia and obesity. In an index Phase 3 trial, broad clinical benefit was observed in patients with BBS based on improvement or stabilization in ≥1 measure of weight, hunger, or quality of life with 1 year of treatment with the MC4R agonist setmelanotide. Reported here are long-term extension (LTE) weight outcomes after 3 years of set...

Background: In patients with Bardet-Biedl syndrome (BBS), signaling impairments in the melanocortin-4 receptor (MC4R) pathway lead to hyperphagia and severe obesity, which negatively impact quality of life (QOL). We evaluated the impact of setmelanotide, an MC4R agonist, on age-appropriate weight-related parameters, hunger, and QOL in a Phase 3 trial of patients with BBS to further characterize clinical benefit in this patient population.Methods: Patient...