For Healthcare Professionals

Setmelanotide in Pediatric Rare Genetic Diseases of Obesity


About the study

This is a phase 3 open-label, one-arm, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric patients aged 2 to <6 years with obesity due to either biallelic variants of the POMC, PCSK1 or LEPR genes or Bardet-Biedl Syndrome (BBS).

Who can take part

You may be eligible to participate in the study if you meet the following criteria:


  1. Patients must have obesity due to either:
  2. POMC, PCSK1, or LEPR deficiency, confirmed by genetic testing demonstrating biallelic variants that are interpreted as pathogenic, likely pathogenic, or of undetermined significance (VUS) by the American College of Medical Genetics and Genomics criteria (ACMG), or
  3. BBS as defined by both (1) the Beales Criteria, 1999 (Beales 1999 [Appendix 1]) AND (2) genetic confirmation of homozygous or compound heterozygous loss-off-function mutation in BBS genes.
  4. Age between 2 to <6 years at the time of informed consent
  5. Obesity, defined as BMI ≥97th percentile for age and gender AND body weight of at least 15 kg at the time of enrollment.
  6. Symptoms or behaviors of hyperphagia at any time during the patient's life, as determined by the Investigator at screening
  7. Parent or guardian of study participant is able to communicate well with the Investigator, to understand and comply with the requirements of the study (including once daily [QD] injection regimen and all other study procedures) and is able to understand and sign the written consent.


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    Study Locations

    Enter your ZIP code/Postal code/PIN code to locate study sites near you:

    How to Apply

    Contact the study center to learn if this study is a good match for you.
    Phone iconCall 857-264-4280Email iconEmail Study Center

    Study’s details


    Bardet-Biedl Syndrome,LEPR Deficiency Obesity,PCSK1 Deficiency Obesity,POMC Deficiency Obesity

    Age (in years)

    2 - 5


    Phase 3

    Participants needed


    Est. Completion Date

    Jun 2023

    Treatment type



    Rhythm Pharmaceuticals, Inc. identifier


    Study number


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