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hrp0094fc2.1 | Fat, Metabolism and Obesity | ESPE2021

Efficacy and Safety Results of a Phase 2 Trial of Setmelanotide in Obesity Due to SH2B1 Variants and 16p11.2 Deletion Syndrome

Argente Jesus , Farooqi Sadaf , Oral Elif , Goldstone Anthony , Ohayon Olga , Scimia Cecilia , Yuan Guojun , Stewart Murray , Chung Wendy ,

Background: Variants in SH2B1 or a 220kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

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hrp0094fc2.3 | Fat, Metabolism and Obesity | ESPE2021

A Phase 2 Trial of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to SRC1 Insufficiency: Body Weight, Body Mass Index Z Score, and Safety Results

Farooqi Sadaf , Argente Jesus , Martos-Moreno Gabriel , Oral Elif , Spiliotis Bessie , Kostopoulou Eirini , Pinhas-Hamiel Orit , Ben-Ami Michal , Ohayon Olga , Scimia Cecilia , Yuan Guojun , Stewart Murray , McCormack Shana ,

Background: Rare genetic diseases of obesity can be caused by genetic variants leading to disrupted activity of the melanocortin-4 receptor pathway (MC4R). Setmelanotide, an MC4R agonist, is being investigated in a basket study of populations with rare variants in different genes in the MC4R pathway who have early-onset, severe obesity and hyperphagia.Methods: This ongoing, Phase 2, open-label study (NCT03013543) enrolle...

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hrp0095p1-474 | Fat, Metabolism and Obesity | ESPE2022

A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

Besci Özge , Nur Fırat Sevde , Özen Samim , Çetinkaya Semra , Akın Leyla , Kör Yılmaz , Pekkolay Zafer , Özalkak Şervan , Özsu Elif , Savaş Erdeve Şenay , Poyrazoğlu Şükran , Berberoğlu Merih , Aydın Murat , Omma Tülay , Akıncı Barış , Demir Korcan , Arioglu Oral Elif

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...

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ESPE Abstracts

Efficacy and Safety Results of a Phase 2 Trial of Setmelanotide in Obesity Due to SH2B1 Variants and 16p11.2 Deletion Syndrome

A Phase 2 Trial of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to SRC1 Insufficiency: Body Weight, Body Mass Index Z Score, and Safety Results

A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

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