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
Genetic Susceptibility to Predict Weight Loss After Bariatric Surgery
Obesity is a complex chronic disease, in which both genetic and environmental factors are involved, that shows a great heterogeneity in the response to different weight loss programs. Identifying patients as responder or no responder to the different obesity treatment options is a concept of great interest, both due to the high prevalence of obesity and its high consumption of resources. More than 500,000 surgeries are performed every year around the world, of which approximately 30% will present unsatisfactory results. The general objective is to carry out a multi-omics approach for the discovery and validation of markers of weight response to bariatric surgery (BS) in a large sample of people with severe obesity (n=6,966 men and women who underwent sleeve gastrectomy or gastric bypass, including an additional external validation set). Thus, the investigators want to know the integrated contribution of several genomic markers (Genome Wide Association study, GWAs), new clinical and analytical variables (human exposome concept) and gender perspective to the prediction of response to the intervention at 12 month and its long-term longitudinal maintenance (3 years). The investigators intend, therefore, to provide new evidence to advance towards precision medicine. The investigators will focus our attention also on identifying those patients who, after being classified at the weight loss nadir as responders experienced weight regain.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.