What the trial was testing
The trial enrolled 15 patients with genetic obesity. The study was sponsored by Rhythm Pharmaceuticals and tracked outcomes across the full group of patients who matched the trial's eligibility profile.
It was a large trial designed to confirm whether the treatment works well enough for wider use. Trials at this stage are designed to produce evidence regulators and physicians can act on — not just observations to follow up later.
What the results showed
80% of POMC-deficiency patients lost 10% or more body weight at one year.
The Lancet Diabetes & Endocrinology · 2020 · NCT02896192
These findings — that of POMC- and LEPR-deficiency patients lost at least 10% body weight on setmelanotide — were published in the The Lancet Diabetes & Endocrinology and represent the headline result of the study.
Researchers tracked outcomes across 15 patients enrolled in the trial. The result was consistent enough across the group that the team felt confident reporting it.
What this means for patients
For patients with genetic obesity, this result changes the calculus on what to ask their care team about. Whether it changes day-to-day care depends on factors like disease subtype, prior treatments, and where the patient is in their care journey.
What you can do now
Setmelanotide (Imcivree) is FDA-approved and available now for genetic obesity caused by POMC, PCSK1, LEPR, or Bardet-Biedl syndrome variants. Genetic testing is required to confirm eligibility. Most common side effects are skin darkening and injection-site reactions. Ask a pediatric or obesity specialist about access.
Eligibility for the treatments mentioned above depends on specific test results and clinical history. Bring this summary, the trial name, and your most recent labs or pathology report to your next visit.
Open genetic obesity trials
Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related autistic features. Although PWS is recognized by DSM-5 as a genetic cause of Autism Spectrum Disorder (ASD), ASD diagnosis in PWS remains rare in France. The CASSPER study aims to investigate the distinct autistic and sensory profiles in children with PWS, also analyzing the potential impact of early oxytocin treatment on these manifestations, in line with recommendations for early and tailored intervention.
Brain Outcomes With Lifestyle Change in Down Syndrome
The goal of this study is to determine if weight loss or changes in dietary intake can help prevent of delay adults with Down syndrome from developing Alzheimer's Disease Adults with Down syndrome without dementia will be randomized to either a weight loss group or a general health education control group. The weight loss group will be asked to follow a reduced energy diet, attend monthly education sessions delivered remotely and self-monitor diet and body weight using commercially available web-based applications. The control group will be asked to attend remotely delivered monthly education sessions on general health education topics. All participants will come to the University of Kansas Medical Center, 3 times across 12 months for a blood draw, cognitive testing, a MRI, assessment of height and weight, and assessment of diet intake.