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

NCT02529085 | Completed

• 1 other identifier: 12 359 03
• Study Type: interventional
• Target: 215
• Locations: 6 countries
• Sites: 6

Brief Summary

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.

Conditions

Prader-Willi Syndrome

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Correlation between hormones and neuropeptides levels

  42 months

Study Arms (2)

Infants with PWS

EXPERIMENTAL

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

control group

OTHER

Blood samples for the bank in children hospitalized for a planned surgery for malformation, orthopaedic or visceral surgery

Other: blood samples

Interventions

blood samples OTHER

blood samples for the bank

Infants with PWS; control group

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Genetic diagnosis of Prader-Willi syndrome

You may not qualify if:

• none
• children hospitalized for a planned surgery for malformation, orthopaedic or visceral surgery
• children with endocrine disorder

Sponsors & Collaborators

• University Hospital, Toulouse: lead
• European Society for Paediatric Endocrinology: collaborator

Study Sites (6)

Unité d'Endocrinologie Pédiatrique / Université Catholique de Louvain

Brussels, 1200, Belgium

Location

Department of Pediatrics / Division of Endocrinology

Toulouse, Haute-Garonne, 31000, France

Location

Department of Endocrinology / University Children's Hospital

Essen, Germany

Location

Department of Pediatrics / Division of Endocrinology / Erasmus University Medical Center / Sophia Children's Hospital Rotterdam

Rotterdam, 3015 GJ, Netherlands

Location

Karolinska University Hospital

Stockholm, Sweden

Location

Metabolic & Molecular Imaging Group / MRC Clinical Sciences Centre / Imperial College London / Hammersmith Hospital

London, W12 0NN, United Kingdom

Location

Related Publications (2)

• 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.

  PMID: 24406482 BACKGROUND

• 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.

  PMID: 27146407 RESULT

MeSH Terms

Conditions

Prader-Willi Syndrome

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Maithe TAUBER, MD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 24, 2015
• First Posted: August 19, 2015
• Study Start: March 1, 2013
• Primary Completion: June 1, 2017
• Study Completion: June 1, 2017
• Last Updated: April 8, 2026

Record last verified: 2026-04

Locations

BE (1); NL (1); FR (1); DE (1); GB (1); SE (1)