European Blood Bank established to track feeding and appetite hormones in infants with Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) presents a paradoxical challenge: severe neonatal hypotonia and failure to thrive are typically followed by an early onset of morbid obesity and hyperphagia with impaired satiety. The underlying mechanisms driving this critical switch, particularly the role of circulating hormones in feeding and appetite regulation during early development, remain poorly understood. Current care focuses on managing symptoms, but a deeper understanding of these hormonal shifts could pave the way for earlier, more targeted interventions to prevent the transition to obesity.

This project describes the establishment of a PWS European Blood Bank for infants aged 0 to 48 months and age-matched controls. The primary objective is to prospectively collect and analyze serum samples to describe the evolution of circulating hormones involved in feeding and appetite regulation. The secondary objective is to make this blood bank available for other research projects, specifically for investigating hormones related to hypogonadism in PWS patients. The investigators leverage an organized network of PWS clinics and patient associations to facilitate precise clinical data and serum sample collection at early stages, capitalizing on the significantly reduced age at diagnosis in PWS over the last decade.

The project's primary aim is to precisely describe the evolution of various circulating hormones implicated in feeding and appetite regulation throughout the critical first four years of life in infants with Prader-Willi Syndrome. This descriptive study seeks to identify specific hormonal shifts that may underlie the transition from neonatal failure to thrive to later hyperphagia and excessive weight gain. The secondary objective is to create a valuable resource for the broader scientific community, enabling future investigations into other endocrine dysfunctions associated with PWS, particularly those related to hypogonadism. By collecting samples from 0 to 48 months, the blood bank is designed to capture the dynamic changes in these hormonal profiles during a pivotal developmental window. The project anticipates that the collected data will illuminate the complex interplay of neuroendocrine factors contributing to the syndrome's characteristic metabolic and behavioral phenotypes.

The central finding expected from this initiative is a detailed longitudinal map of appetite and feeding hormone levels in early PWS development, providing a foundation for understanding the mechanisms behind the disease's progression.