Prader-Willi Syndrome
Conditions
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.
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.
Interventions
OTHERblood samples
blood samples for the bank
Sponsors
University Hospital, Toulouse
European Society for Paediatric Endocrinology
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Levels of hormones and neuropeptides | 42 months | Measure of hormones and neuropeptides (ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, melatonin, orexins) involved in feeding and appetite regulation |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation between hormones and neuropeptides levels | 42 months | study the correlation between ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, melatonin, orexins |
Countries
Belgium, France, Germany, Netherlands, Sweden, United Kingdom
Contacts
PRINCIPAL_INVESTIGATORMaithe TAUBER, MD
University Hospital, Toulouse
Outcome results
None listed