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
Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.
Overweight and Obesity and Puberty Development Cohort Study
Precocious puberty and childhood overweight and obesity are important public health problems that both had adverse effects, which including psychological symptom in childhood, short final height or reproductive dysfunction in adulthood, on children's physical and psychological development.The prevalence of precocious puberty and childhood overweight and obesity are both high, and a growing body of epidemiological studies suggested that there was a close relationship of childhood overweight and obesity with puberty development, especially in girls. However, the underlying mechanism between them is unclear. Existing evidence shows that the occurrence of precocious puberty and overweight and obesity are the result of interaction of multiple factors, which consists growth environment and genetics, and many previous studies provided that more overlapping genes existed between obesity and precocious puberty patients, suggesting that common genes may result in these diseases. Therefore, based on a case control study, which will investigate the associations between obesity pleiotropic genes and early puberty, the researchers will collect information related to obesity, growth environment factors and risk genes in this study to evaluate the relationships of these related factors and precocious puberty, and to further explore whether there exists biological interaction effects of these risk factors on sexual precocity. This project has been approved by the Ethics Committee of Shanghai Children's Medical Center.