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

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ID: 325034
2026
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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.
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openalex_W7203496693 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Karine Clément, I. Sadaf Farooqi, Peter Kühnen, S. Brandt, Metin Cetiner, Jesús Argente, Annette Grueters
Journal the journal of clinical endocrinology & metabolism
Year 2026
DOI
10.1210/clinem/dgag330
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