Condition: Monogenic Obesity · Sponsor: Assistance Publique - Hôpitaux de Paris
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 may interact with rare variants and contribute to the severity of the phenotype, disease progression, and therapeutic response. The natural history of monogenic obesity is characterized by an early onset in childhood, with a major increase in weight in adolescence and young adulthood. The worsening of obesity exposes these patients to severe complications. Severe obesity and eating disorders have a major impact on the quality of life of the person but also of the family and caregivers. Clinical management is complex and requires comprehensive, specialized and multidisciplinary management. The …
This description comes directly from the study's public registry record.
Christine POITOU-BERNERT, MD,PhD · +33(0)142175771 · christine.poitou-bernert@aphp.fr
Sarra POCHON · +33(0)142167574 · sarra.pochon@aphp.fr
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| 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 | Not Yet Recruiting |
| CHU Pitié Salpêtrière - APHP | Paris, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06380426