Circulating levels of ghrelin in patients with a rare disease with intellectual disability associated with hyperphagia, and/or overweight, and/or obesity – The HOGRID study

Cathy Brochado; Alice Clerc; Grégoire Benvegnu; Gwenaëlle Diene; Béatrice Jouret; Emilie Montastier; Solange Grunenwald; Catherine Molinas; Sandy Faye; Marion Valette; Maïthé Tauber

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ESPE Abstracts (2024) 98 P1-46

ESPE2024 Poster Category 1 Fat, Metabolism and Obesity 1 (10 abstracts)

Circulating levels of ghrelin in patients with a rare disease with intellectual disability associated with hyperphagia, and/or overweight, and/or obesity – The HOGRID study

Cathy Brochado ^1,2 , Alice Clerc ¹ , Grégoire Benvegnu ¹ , Gwenaëlle Diene ^1,3 , Béatrice Jouret ¹ , Emilie Montastier ¹ , Solange Grunenwald ¹ , Catherine Molinas ^1,2,4 , Sandy Faye ^1,2 , Marion Valette ^1,2,3 & Maïthé Tauber ^1,2,4

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¹Centre de Référence PRADORT, CHU de Toulouse, Toulouse, France. ²Axe Pédiatrique du CIC 9302/INSERM, Hôpital des Enfants, Toulouse, France. ³INSERM, UMR 1027‐ Université Toulouse III, Hôpital Paule de Viguier, Toulouse, France. ⁴Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity) Inserm UMR1291 - CNRS UMR5051 - Université Toulouse III Paul Sabatier, Toulouse, France

Introduction: The prevalence of overweight and/or obesity is approximately 2 times higher in people with intellectual disability (ID). Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder linked to hypothalamic dysfunction. People with PWS display ID and a characteristic nutritional trajectory ranging from anorexia to hyperphagia, leading to early severe obesity. Other rare diseases with ID are associated with eating disorders and overweight. Today, PWS is the only identified genetic obesity associated with hyperghrelinemia, whereas ghrelin levels tend to be lower in other conditions with obesity. Ghrelin, in its acylated form, is orexigenic and exerts its metabolic effects primarily in the hypothalamus, counteracting the effects of leptin. The HOGRID study is a cross-disciplinary project, within the rare ID diseases network « Filière DéfiScience », on the pathophysiology of hyperphagia and overweight /obesity in rare-cause of ID, with particular emphasis on the role of ghrelin.

Methods: HOGRID is a cross-sectional, non-interventional, national multicenter (Lyon, Paris and Toulouse) clinical study. Patients underwent a single study visit during their routine follow-up comprising fasting blood sampling, clinical examination and completion of a series of questionnaires.

Inclusion criteria: Patients aged between 3 and 50 years, of both sexes, with one of the following pathologies: Smith-Magenis, X-Fragile, Angelman syndromes, rare cerebellum diseases, rare epilepsies, other rarer syndromes associated with overweight (BMI ≥ IOTF25 curve) and/or hyperphagia.

Methods: This was a cross-sectional, non-interventional, national multicenter clinical study (Lyon, Paris and Toulouse). The study included 130 patients who participated in a single visit during routine follow-up, with fasting blood sampling, clinical examination and completion of a series of questionnaires.

Results: We included 130 patients with a median age of 19.79 years (3 to 47 years), 43% were children (54% boys), 26% were overweight, 59% obese and 15% lean, and 76% displayed hyperphagic behavior. Among them, 30 patients (23.1%) presented with Smith-Magenis syndrome, 18 (13.8%) with 16p11.2 deletion, 17 (13.1%) with X-Fragile syndrome, 14 (10.8%) with Bardet-Biedl syndrome, 10 (7.7%) with 22q11 deletion, 9 (6.9%) with Angelman syndrome, and 32 (24.6%) with other rare conditions with ID.

Conclusion: We did not find hyperghrelinemia in these patients as a total group or as a pathology group, confirming that hyperghrelinemia is specific to the PWS group. We also collected extensive data on these patients in terms of eating behavior, BMI and metabolic impact.