PWS European Blood Bank for Infants and Controls From 0 to 48 Months

Study of Early Endocrine Profile in Infants With Prader-Willi Syndrome (PWS) in Order to Unravel the Switch From Early Feeding Difficulties to Obesity and Hyperphagia.

The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS. The primary objective is to describe the evolution of circulating hormones involved in feeding and appetite regulation during the 4 first years of life. The secondary objective is to make this blood bank available for other research projects and particularly the investigation of hormones involved in hypogonadism.

Over the last ten years, the age at diagnosis in PWS has fallen significantly and the majority of cases is now diagnosed during the 1st trimester of life giving the possibility to collect precise clinical data and serum samples at early stages. The investigators of the project are involved in the care of patients with PWS and have a devoted clinic and an organized network in their country through clinical networks or patient associations.

Study Overview

• Status: Completed
• Conditions: Prader-Willi Syndrome
• Intervention / Treatment: Other: blood samples

Detailed Description

The investigators propose to perform a prospective multicentric study, both longitudinal (duration 30 months) and cross-sectional with implementation of a blood bank in link with a multicenter database including clinical data on birth, auxology, endocrine functions and feeding behaviour. The cohort will include 200 infants from 3 to 48 months with PWS and 200 controls matched on age recruited in the 6 participating countries. The investigators make the assumption that 3 blood sampling will be necessary during the first year and 6 monthly sampling thereafter. For measuring hormones and neuropeptides (ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, cortisol, melatonin, orexin A, GLP-1 and PYY) involved in feeding and appetite regulation the investigators will use primarily multiplex microplates technics requiring 50-200µl of sample. Intragroup and intergroup comparisons will be performed in order to describe the evolution of each hormone with time and to compare data obtained in the PWS group with those obtained in the control group.

• Study Type: Interventional
• Enrollment (Actual): 215
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Belgium
  • Brussels, Belgium, 1200
    • Unité d'Endocrinologie Pédiatrique / Université Catholique de Louvain
• France
  • Haute-Garonne
    • Toulouse, Haute-Garonne, France, 31000
      • Department of Pediatrics / Division of Endocrinology
• Germany
  • Essen, Germany
    • Department of Endocrinology / University Children's Hospital
• Netherlands
  • Rotterdam, Netherlands, 3015 GJ
    • Department of Pediatrics / Division of Endocrinology / Erasmus University Medical Center / Sophia Children's Hospital Rotterdam
• Sweden
  • Stockholm, Sweden
    • Karolinska University Hospital
• United Kingdom
  • London, United Kingdom, W12 0NN
    • Metabolic & Molecular Imaging Group / MRC Clinical Sciences Centre / Imperial College London / Hammersmith Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria (PWS infants cohort)

• Genetic diagnosis of Prader-Willi syndrome

Exclusion Criteria (PWS infants cohort)

• none

Inclusion Criteria (control group)

• children hospitalized for a planned surgery for malformation, orthopaedic or visceral surgery

Exclusion Criteria (control group)

• children with endocrine disorder

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Infants with PWS; Blood samples for the bank in link with a multicenter database including clinical data on birth, auxology, endocrine functions and feeding behaviour	Other: blood samples; blood samples for the bank
Other: control group; Blood samples for the bank in children hospitalized for a planned surgery for malformation, orthopaedic or visceral surgery	Other: blood samples; blood samples for the bank

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Levels of hormones and neuropeptides	Measure of hormones and neuropeptides (ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, melatonin, orexins) involved in feeding and appetite regulation	42 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation between hormones and neuropeptides levels	study the correlation between ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, melatonin, orexins	42 months

Collaborators and Investigators

• Sponsor: University Hospital, Toulouse
• Collaborators: European Society for Paediatric Endocrinology
• Investigators: Principal Investigator: Maithe TAUBER, MD, University Hospital, Toulouse

Publications and helpful links

General Publications

• Cadoudal T, Buleon M, Sengenes C, Diene G, Desneulin F, Molinas C, Eddiry S, Conte-Auriol F, Daviaud D, Martin PG, Bouloumie A, Salles JP, Tauber M, Valet P. Impairment of adipose tissue in Prader-Willi syndrome rescued by growth hormone treatment. Int J Obes (Lond). 2014 Sep;38(9):1234-40. doi: 10.1038/ijo.2014.3. Epub 2014 Jan 10.
• Beauloye V, Diene G, Kuppens R, Zech F, Winandy C, Molinas C, Faye S, Kieffer I, Beckers D, Nergardh R, Hauffa B, Derycke C, Delhanty P, Hokken-Koelega A, Tauber M. High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome. Orphanet J Rare Dis. 2016 May 4;11(1):56. doi: 10.1186/s13023-016-0440-0.

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2013
• Primary Completion (Actual): June 1, 2017
• Study Completion (Actual): June 1, 2017

Study Registration Dates

• First Submitted: April 24, 2015
• First Submitted That Met QC Criteria: August 18, 2015
• First Posted (Estimated): August 19, 2015

Study Record Updates

• Last Update Posted (Actual): April 8, 2026
• Last Update Submitted That Met QC Criteria: April 2, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Imprinting Disorders; Neurologic Manifestations; Nervous System Diseases; Nutrition Disorders; Genetic Diseases, Inborn; Overnutrition; Neurobehavioral Manifestations; Congenital Abnormalities; Abnormalities, Multiple; Overweight; Intellectual Disability; Obesity; Chromosome Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Prader-Willi Syndrome; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: 12 359 03