|- candidate number||2849|
|- NTR Number||NTR1110|
|- ISRCTN||wordt niet aangevraagd/Observational study|
|- Date ISRCTN created|
|- date ISRCTN requested|
|- Date Registered NTR||31-okt-2007|
|- Secondary IDs||incomplete |
|- Public Title||Observational cohort study|
Ageing in Prader-Willi syndrome;
Gezond ouder worden met Prader-Willi syndroom.
|- Scientific Title||Observational cohort study;|
Ageing in Prader-Willi syndrome; an observational cohort study on the physical, behavioural, psychiatric conditions and skills in adults with Prader-Willi syndrome.
|- Healt Condition(s) or Problem(s) studied||Prader-Willi syndrome|
|- Inclusion criteria||1. Clinical diagnosis of Prader-Willi syndrome (meeting consensus diagnostic criteria (Holm et al., 1993));|
2. At least 18 years of age.
|- Exclusion criteria||Genetic investigations excluding Prader-Willi syndrome.|
|- mec approval received||yes|
|- multicenter trial||no|
|- Type||Single arm|
|- planned startdate ||1-okt-2007|
|- planned closingdate||1-okt-2008|
|- Target number of participants||100|
|- Interventions||Observational study, no interventions.|
|- Primary outcome||1. What is the age distribution in the population of people with PWS?;|
2. Which physical, behavioural, psychiatric conditions and skills manifest in adults with Prader-Willi syndrome?;
3. Which of these characteristics are age-related?;
4. Which changes in physical, behavioural, psychiatric conditions and skills are present in adults with Prader-Willi syndrome; are these changes age-related?;
5. What is the demand for health-care in adults with PWS; are these age-related? Which changes in health-care demands can be expected?
|- Secondary outcome||1. What are the main causes of death in Prader-Willi syndrome? Are they age-specific?;|
2. How can an adequate transition from paediatric to adult healthcare for persons with Prader-Willi syndrome be provided?
|- Trial web site||N/A|
|- status||open: patient inclusion|
|- CONTACT FOR PUBLIC QUERIES||Drs. M. Sinnema|
|- CONTACT for SCIENTIFIC QUERIES||Prof. dr. L.M.G. Curfs|
|- Sponsor/Initiator ||Gouverneur Kremers Centrum|
(Source(s) of Monetary or Material Support)
|Dutch Prader-Willi Fund|
|- Brief summary||Rationale: Different life stages in persons with Prader-Willi syndrome know different features. PWS is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence this is followed by hyperphagia and, without any dietary instructions, extreme obesity. Little is known about the ageing process in PWS. Morbidity and mortality are high in adulthood. Because of typical Prader-Willi characteristics, like high pain threshold, decreased propensity to vomit and different temperature sensitivity, severe illnesses might only be recognized in advanced stages. Consequently there is a need for preventive management.
Objective: Aim of the study is to describe the full range of characteristics in adults with Prader-Willi syndrome. These data serve as baseline information for further longitudinal research to the ageing process in PWS. The information will be used to adjust guidelines for preventive management, which can serve as basis for health monitoring. |
Study design: Observational cohort study, to start with cross-sectional data. Follow up of this cohort will take place in the future.
Study population: The study population consists of as many as possible adults (18+) with a clinical diagnosis of Prader-Willi syndrome in the Netherlands.
Main study parameters/endpoints: The full range of characteristics of adults with Prader-Willi syndrome will be described. This will include physical, behavioural, psychiatric conditions as well as skills. It will be studied to what extent these characteristics are age-specific.
|- Main changes (audit trail)|
|- RECORD||31-okt-2007 - 12-nov-2008|