Publications and Presentations

Publications

Ervin, C., et al. Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome. Advances in Therapy (2023) https://link.springer.com/article/10.1007/s12325-023-02443-y

Shah, B., et al. Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants. Expert Review of Endocrinology & Metabolism. Online first (2023). DOI: 10.1080/17446651.2023.2179985. https://doi.org/10.1080/17446651.2023.2179985

Clément, K., et al. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. The Lancet Diabetes & Endocrinology. Online first (2020). https://doi.org/10.1016/S2213-8587(20)30364-8

Clément, K., et al. MC4R agonism promotes durable weight loss in patients with leptin receptor deficiencyNat. Med. 24, 551–555 (2018). https://doi.org/10.1038/s41591-018-0015-9

Kühnen, P., et al. Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist. New England Journal of Medicine; 375:240-6. DOI: 10.1056/NEJMoa1512693(2016). https://www.nejm.org/doi/10.1056/NEJMoa1512693

Garfield, AS. et al. Role of central melanocortin pathways in energy homeostasis. Trends in Endocrinology and Metabolism: TEM, 203-215. DOI: 10.1016/j.tem.2009.02.002 (2009).https://doi.org/10.1016/j.tem.2009.02.002

To request a copy of an article, email [email protected].

Presentations

The Obesity Society’s ObesityWeek® 2023

Weight Reduction in Patients With Hypothalamic Obesity Treated With Setmelanotide for 12 Months
Christian L. Roth, M.D., Seattle Children’s Research Institute, Seattle, WA 
Poster

3-Year Setmelanotide Weight Outcomes in Patients With Bardet-Biedl Syndrome and Obesity
Jack A. Yanovski, M.D., Ph.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
Poster

Cardiac, Renal, and Endocrine/Diabetes Mellitus Outcomes in Children With Bardet-Biedl Syndrome
Jeremy Pomeroy, Ph.D., M.S., Marshfield Clinic Research Institute
Poster

Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome
Andrea Haqq, M.D., M.H.S., Division of Pediatric Endocrinology at the University of Alberta
Presentation

4-Year Setmelanotide Weight Outcomes in Patients With POMC and LEPR Deficiency Obesity
Wendy K. Chung, M.D., Ph.D., Division of Molecular Genetics, Department of Pediatrics, Columbia University, New York, NY
Presentation

Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With POMC and LEPR Deficiency
Martin Wabitsch, M.D., Ph.D., Department of Pediatrics and Adolescent Medicine, University of Ulm in Germany
Presentation

ESPE 2023 – European Society for Paediatric Endocrinology Annual Meeting

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity
Jesús Argente, MD, PhD, Professor in the Department of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid
Slides

Impact of Setmelanotide on Metabolic Syndrome Risk in Pediatric Patients With POMC and LEPR Deficiency
Martin Wabitsch, M.D., Ph.D., Department of Pediatrics and Adolescent Medicine, University of Ulm in Germany
Slides

Impact of Setmelanotide on Future Metabolic Syndrome Risk in Pediatric Patients With Bardet-Biedl Syndrome
Jesús Argente, MD, PhD, Professor in the Department of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid
Slides

Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity
Anthony Goldstone, M.D., Ph.D., Department of Brain Sciences, Imperial College London
Slides

ENDO 2023 – Annual Conference

Weight Reduction After 6 Months Of Setmelanotide Treatment in Patients With Hypothalamic Obesity
Christian L. Roth, M.D., Seattle Children’s Research Institute, Seattle, WA
Poster

Treatment History and Comorbidities Reported by Patients With Hypothalamic Obesity Treated With Setmelanotide in a Phase 2 Trial
Christian L. Roth, M.D., Seattle Children’s Research Institute, Seattle, WA
Poster

Effect of Setmelanotide on Metabolic Parameters and Vital Signs in a Phase 2 Trial of Patients With Hypothalamic Obesity
Michael Gottschalk, M.D., Ph.D., Rady Children’s Hospital-San Diego, Professor, UC San Diego School of Medicine
Poster

Trial Design of a Double-blind, Randomized, Placebo-Controlled, Phase 3 Study of Setmelanotide in Patients With Hypothalamic Obesity
Ashley Shoemaker, M.D., Pediatric Endocrinology, Vanderbilt University Medical Center
Poster 

The Obesity Society’s ObesityWeek® 2022

Efficacy and Safety Analysis of Setmelanotide As a Novel Treatment for Hypothalamic Obesity
Christian L. Roth, M.D., Seattle Children’s Research Institute, Seattle, WA
Poster

Substantial Burden Associated With Hyperphagia and Obesity in Children With Bardet-Biedl Syndrome
Jeremy Pomeroy, Ph.D., M.S., Marshfield Clinic Research Institute
Poster

Exploration of Clinical Improvements Following Setmelanotide Treatment in Patients With Bardet-Biedl Syndrome
Andrea Haqq, M.D., M.H.S., Division of Pediatric Endocrinology at the University of Alberta
Poster

Natural History of Weight Gain in Children With Bardet-Biedl Syndrome: Results From the Clinical Registry Investigating Bardet-Biedl Syndrome
Jeremy Pomeroy, Ph.D., M.S., Marshfield Clinic Research Institute
Poster

Weight Outcomes With Setmelanotide Over 3 Years in Patients With POMC or LEPR Deficiency Obesity
Karine Clément, M.D., Ph.D., Professor of Nutrition at Pitié-Salpêtrière Hospital, Sorbonne Université and Head of the INSERM Nutriomics Laboratory in Paris
Slides

Variants in Obesity-Related Genes in a Population With Early-Onset Obesity
Patrick Kleyn, Ph.D., SVP, Head of Translational Research and Development at Rhythm Pharmaceuticals
Poster

Frequency of MC4R Pathway Variants in a Large US Cohort of Patients With Severe Obesity
Elliot Bromberg, Beghou Consulting, Boston, MA
Poster

Effect of Long-term Setmelanotide Use on Body Composition in Patients With POMC or LEPR Deficiency Obesity
Karine Clément, M.D., Ph.D., Professor of Nutrition at Pitié-Salpêtrière Hospital, Sorbonne Université and Head of the Inserm Nutriomics Laboratory in Paris
Poster

Uncovering Rare Obesity Genetic Testing Program: Utility of Genetic Testing in Adults With Obesity
Patrick Kleyn, Ph.D., SVP, Head of Translational Research and Development at Rhythm Pharmaceuticals
Poster

Frequency of BBS and ALMS1 Variants in a Cohort With Early-Onset Obesity
Patrick Kleyn, Ph.D., SVP, Head of Translational Research and Development at Rhythm Pharmaceuticals
Poster

International Meeting on Pathway-Related Obesity: Vision of Excellence (IMPROVE) 2022

Setmelanotide in Patients with Obesity due to Certain MC4R Variants Stratified as Rescuable or Nonrescuable Based on an In Vitro Functional Assay
Poster

ESPE 2022 – European Society for Paediatric Endocrinology Annual Meeting

The Multifaceted Burden Experienced by Caregivers of Individuals with Bardet-Biedl Syndrome: Findings from the CARE-BBS Study
Elizabeth Forsythe, M.D., Ph.D., UCL Great Ormond Street Institute of Child Health, London.
Slides

Caregiver Burden in Bardet-Biedl Syndrome: a Survey of Obesity and Hyperphagia Impacts
Dr. Forsyth
Poster

Effects of Setmelanotide Treatment in Children and Adolescents with Proopiomelanocortin (POMC) Deficiency, Leptin Receptor (LEPR) Deficiency, and Bardet-Biedl Syndrome (BBS)
Jesús Argente, MD, Professor in the Department of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid
Slides

VENTURE: Design of a Phase 3 Multicenter, 1-Year, Open-label Trial of Setmelanotide in Pediatric Patients Aged 2 to <6 Years with Rare Genetic Diseases of Obesity
Dr. Argente
Poster

ENDO 2022 – Annual Conference

Long-term Efficacy of Setmelanotide in Patients with Bardet-Biedl Syndrome
Jesús Argente, M.D., Ph.D., Universidad Autónoma de Madrid in Spain
Poster

Long-term Efficacy of Setmelanotide in Patients With POMC or LEPR Deficiency Obesity
Karine Clément, M.D., Ph.D., Professor of Nutrition at Pitié-Salpêtrière Hospital, Sorbonne Université and Head of the INSERM Nutriomics Laboratory in Paris
Poster

Body Mass Index and Weight Reduction in Patients with SH2B1 Deficiency Obesity After 1 Year of Setmelanotide
Sadaf Farooqi, M.D., Ph.D, the Wellcome-MRC Institute of Metabolic Science at the University of Cambridge
Poster

Body Mass Index and Weight Reductions in Patients with SRC1 Deficiency Obesity After 1 Year of Setmelanotide
Jesús Argente, M.D., Ph.D., Universidad Autónoma de Madrid in Spain.
Poster

Body Mass Index and Weight Reductions in Patients with Obesity Due to Heterozygous Variants in POMC, PCSK1, or LEPR After 1 Year of Setmelanotide
Brieana Buckley, PharmD, M.S., Vice President of Medical Affairs at Rhythm
Slides

Setmelanotide in Patients With Obesity Due to Heterozygous Variants in POMC, LEPR, NCOA1, or SH2B1 Genes: Design of EMANATE—a Placebo-Controlled Phase 3 Trial
Sadaf Farooqi, M.D., Ph.D, the Wellcome-MRC Institute of Metabolic Science at the University of Cambridge
Poster