NCT04463316: GROW UR GENES

GROWing Up With Rare GENEtic Syndromes

Recruiting now Last updated 6 September 2023

What this trial tests

trial testing Retrospective file studies in Prader-Willi Syndrome in 600 participants. Currently enrolling.

Timeline

1 October 2018

Primary endpoint
1 January 2030

1 January 2030

Quick facts

Lead sponsor	dr. Laura C. G. de Graaff-Herder
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	600
Start date	1 October 2018
Primary completion	1 January 2030
Estimated completion	1 January 2030
Sites	1 location across Netherlands

Drugs / interventions tested

• Retrospective file studies

Conditions studied

• Prader-Willi Syndrome — all drugs for Prader-Willi Syndrome →
• PWS-like Syndrome — all drugs for PWS-like Syndrome →
• Silver Russel Syndrome — all drugs for Silver Russel Syndrome →
• Congenital Hypopituitarism — all drugs for Congenital Hypopituitarism →

Sponsor

dr. Laura C. G. de Graaff-Herder

Who can join

18 and older, any sex, with Prader-Willi Syndrome or PWS-like Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.

Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.

Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.

The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:

1. comorbidities
2. medical and their impact on quality of life
3. medication use
4. the need for adaption of medication dose according to each syndrome

Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.