Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care

Advances in research enable precision medicine for rare metabolic diseases. The approval of therapies as melanocortin-4 receptor (MC4R) agonists for the treatment of hyperphagia and obesity in monogenic disorders (POMC, PCSK1, and LEPR deficiencies) and Bardet-Biedl syndrome (BBS), affecting fewer than 1 in 20,000 (BBS) to fewer than 1 in 1,000,000 individuals, represents a major advance. These therapies have transformative potential but introduce new responsibilities due to limited patient numbers and lack of long-term data. Equitable access to diagnosis and treatment, expert care and structured monitoring systems facilitate efficient use of resources and can address gaps in knowledge. This article outlines a European expert consensus recommending the designation of centers of expertise to coordinate the diagnosis and treatment of patients with monogenic obesity. The need for structured care protocols based on continued analysis of real-world databases to optimize therapy in a responsible manner is emphasized. The goals are (1) early and precise diagnosis; (2) access for eligible patients to therapy; (3) continuous evaluation of treatment response allowing discontinuation without no measurable clinical benefit and (4) provision of clinical care by trained and experienced professionals.

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Publication Details

Journal
The Journal of Clinical Endocrinology & Metabolism
Published
2026-08-14
DOI
https://doi.org/10.1210/clinem/dgag330
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
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article

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care

I. Sadaf Farooqi, Annette Grueters, Peter Kühnen, Metin Cetiner et al.
The Journal of Clinical Endocrinology & Metabolism
Genetic and Kidney Cyst Diseases
article

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care

I. Sadaf Farooqi, Annette Grueters, Peter Kühnen, Metin Cetiner, Jesús Argente, S. Brandt, Karine Clément
article en

Abstract

Advances in research enable precision medicine for rare metabolic diseases. The approval of therapies as melanocortin-4 receptor (MC4R) agonists for the treatment of hyperphagia and obesity in monogenic disorders (POMC, PCSK1, and LEPR deficiencies) and Bardet-Biedl syndrome (BBS), affecting fewer than 1 in 20,000 (BBS) to fewer than 1 in 1,000,000 individuals, represents a major advance. These therapies have transformative potential but introduce new responsibilities due to limited patient numbers and lack of long-term data. Equitable access to diagnosis and treatment, expert care and structured monitoring systems facilitate efficient use of resources and can address gaps in knowledge. This article outlines a European expert consensus recommending the designation of centers of expertise to coordinate the diagnosis and treatment of patients with monogenic obesity. The need for structured care protocols based on continued analysis of real-world databases to optimize therapy in a responsible manner is emphasized. The goals are (1) early and precise diagnosis; (2) access for eligible patients to therapy; (3) continuous evaluation of treatment response allowing discontinuation without no measurable clinical benefit and (4) provision of clinical care by trained and experienced professionals.

The Journal of Clinical Endocrinology & Metabolism
Inserm (FR), Universität Ulm (DE), Instituto de Salud Carlos III (ES), Humboldt-Universität zu Berlin (DE), Sorbonne Université (FR), Nutrition et obésité : approches systémiques (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospital Infantil Universitario Niño Jesús (ES), Wellcome/MRC Institute of Metabolic Science (GB), Essen University Hospital (DE), Pitié-Salpêtrière Hospital (FR), German Centre for Cardiovascular Research (DE), IMDEA Food (ES), University Hospital Ulm (DE), University of Duisburg-Essen (DE), Universidad Autónoma de Madrid (ES)
Partnerships for the goals
Openalex Percentile: Top 9%
Genetic and Kidney Cyst Diseases
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