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A Multicenter Pharmacoepidemiological Cohort on Real Life Use of Semaglutide in Adolescents or Adults With Monogenic Obesity

Recruitingn/aAges 12 Years - anyAllAssistance Publique - Hôpitaux de Paris
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In plain words

What the trial is, and whether it could suit you

Rare genetic forms of obesity, so called monogenic obesity are linked to alteration in energy balance involving hypothalamic pathways. More than 60 genes encoding for proteins located in the hypothalamic leptin/melanocortin pathway have been described in the French National Protocol for Diagnostic and Care (PNDS). While pathogenic and likely pathogenic variants in these genes are well-established causes of monogenic obesity, current evidence supports a broader genetic architecture of obesity, better understood as a continuum ranging from rare high-impact variants to polygenic susceptibility. Variants of uncertain significance (VUS) as well as variants currently classified as benign or likely benign are frequently identified in clinical practice, and their classification may evolve over time as genomic databases expand and functional data accumulate In addition, polygenic background ma

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📋 Eligibility rules (as published)
Inclusion Criteria: * Patients (≥12 years) having already initiated a treatment with SEMAGLUTIDE (regardless of the context: early access, routine care, self-financing, or exceptional reimbursement) or with a physician's decision to initiate treatment in the standard care. All patients having initiated treatment will be proposed to participate, including those having already stopped the treatment at the time of study initiation. * Confirmation of monogenic obesity, as practiced in clinical routine, regardless of current classification (i.e., pathogenic, likely pathogenic, variant of uncertain significance \[VUS\], or benign) in a gene with leptin-melanocortin pathway described in PNDS (https://www.has-sante.fr/jcms/p\_3280217/fr/generique-obesites-de-causes-rares). ) For patients with VUS or benign variants, inclusion is conditional on the availability of a polygenic risk score (PRS) * Patients duly informed and not objecting to participate in the study. For patients ≥12 years \<18 years Parents duly informed and not objecting that their child taking part in the study * Patients affiliated to a social security scheme or State Medical Assistance (AME). Exclusion Criteria: * Pregnant and breastfeeding women
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What it tests

  • Not listed
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Where

2 sites
Centre de référence Syndrome de Prader-Willi et autres obésités avec troubles du comportement alimentaire (PRADORT). Service de Nutrition, GH Pitié-Salpêtrière, APHP
Paris, France
CHU Pitié Salpêtrière - APHP
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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