Setmelanotide in patients with specific gene defects (035 study)
Research type
Research Study
Full title
A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial: Multiple Independent Sub-studies of Setmelanotide in Patients with POMC/PCSK1, LEPR, NCOA1 (SRC1), or SH2B1 Gene Variants in the Melanocortin-4 Receptor Pathway
IRAS ID
306045
Contact name
Sadaf Farooqi
Contact email
Sponsor organisation
Rhythm Pharmaceuticals Inc.
Eudract number
2021-002873-24
Clinicaltrials.gov Identifier
Duration of Study in the UK
5 years, 1 months, 0 days
Research summary
This Phase 3 trial consists of 5 Independent Sub-studies of Setmelanotide in Patients with POMC, PCSK1, LEPR, SRC1, SH2B1, and PCSK1 N221D Gene Defects in the Melanocortin-4 Receptor Pathway.
Severe obesity is strongly influenced by genetic factors. Many of the genes involved in causing obesity affect the function of the melanocortin-4 receptor (MC4R) pathway which is the principal regulator of body weight.
The primary objective is to independently evaluate for each sub-study the proportion of obese patients with POMC and PCSK1 (Sub-study 35a), LEPR (Sub-study 35b), SRC1 (Sub-study 35c), SH2B1 (Sub-study 35d), and PCSK1 N221D (Sub-study 35e) gene defects in the MC4R pathway who respond to setmelanotide after 52 weeks of treatment. The primary objective of the study is to test the proportion of patients who are responders to active treatment (setmelanotide) compared to placebo. These 5 sub-studies have high degree of similarities.
Specifically, regarding children less than 12 years old, the United States (US) FDA has recently approved setmelanotide for chronic weight management in adult and paediatric patients aged ≥6 with obesity due to three genetic conditions that cause obesity (POMC, PCSK1, and LEPR deficiency). The product is now the first-ever FDA approved therapy for these genetic diseases which cause obesity.
REC name
London - Westminster Research Ethics Committee
REC reference
21/LO/0878
Date of REC Opinion
2 Feb 2022
REC opinion
Further Information Favourable Opinion