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Adipose Tissue_Appetite_and Obesity

SAT-706 - Administration and Efficacy of Setmelanotide for Bardet Biedl Syndrome in Routine Clinical Practice

Saturday, June 13, 2026
9:30 AM - 4:30 PM CT
Location: ENDOExpo; Poster Floor
Disclosure(s):
Ashley H. Shoemaker, MD, MSCI: .NovoNordisk: Clinical Trial Investigator (); Aardvark Therapeutics: Clinical Trial Investigator (); Eli Lilly & Company: Contracted Research (Principal Investigators must provide information, even if received by the institution) (); Rhythm Pharmaceuticals: Advisory Board (), Clinical Trial Investigator (), Consultant (), Employee (any industry) (); Soleno Therapeutics: Clinical Trial Investigator (), Consultant ()


Objectives: Bardet Biedl syndrome (BBS) is an autosomal recessive disorder associated with early onset obesity. Setmelanotide was approved for treatment of BBS in patients ≥6 years beginning in 2022 and the indication expanded to children ≥2 years beginning in late 2024. Since the setmelanotide phase 3 trial in BBS included only 31 patients, and the weight loss response was variable, we aimed to determine real world efficacy, safety and accessibility of setmelanotide treatment in patients with BBS.

Methods: This was a retrospective observational study of patients with BBS from 8 pediatric centers across the U.S. The research protocol was approved by each local IRB.

Results: Deidentified data was collected from 64 patients (54.7% male, 67.2% white, 46% Hispanic). The average age was 13.8 years (range 1.2–30.2 years) and 68.3% had public insurance. Most patients (n=41, 64.1%) were prescribed setmelanotide; reasons for not prescribing included age < 6 years (n=5) and family preference (n=9). Three patients (7.3%) were prescribed but unable to obtain setmelanotide due to insurance coverage, 2 with private insurance. Time from prescription to medication start averaged 4 months (range 0-15 months). Improvement in hyperphagia was reported in 21 out of 35 patients with available data (77.1%). Longitudinal BMI data was available for 32 patients treated with setmelanotide. Patients were treated for an average of 9.3 months and 75% had a decrease in BMI on treatment (average ΔBMI -1.9 ± 3.1 kg/m2, range -11.4 to 2.6 kg/m2). Sixteen patients were treated for ≥12 months; the average 12-month ΔBMI was -3.4 ± 3.5 kg/m2. Side effects were reported in 34 patients (82.9%), including hyperpigmentation (generalized n=21, localized n=6), nausea (n=7), vomiting (n=5), injection site reactions (n=6) and increased erections (n= 2). At 12 months, 39% (n=16) had discontinued setmelanotide. The most common reasons for discontinuation were hyperpigmentation (n=9, 56.3%), gastrointestinal side effects (n=4, 25%) and intolerance of injections (n=2, 12.5%).

Conclusions: Setmelanotide is an effective real-world treatment for hyperphagia and obesity in patients with BBS, but side effects limit long term use. Hyperpigmentation was the most common reason for both not starting and discontinuing therapy. Insurance coverage was not a major barrier to treatment.

*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.*