GROWing Up With Rare GENEtic Syndromes (GROW UR GENES)
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|ClinicalTrials.gov Identifier: NCT04463316|
Recruitment Status : Recruiting
First Posted : July 9, 2020
Last Update Posted : July 9, 2020
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:
- medical and their impact on quality of life
- medication use
- 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.
|Condition or disease||Intervention/treatment|
|Prader-Willi Syndrome PWS-like Syndrome Silver Russel Syndrome Congenital Hypopituitarism Klinefelter (XXY-)Syndrome Congenital Adrenal Hyperplasia XXXXY Syndrome XXYY Syndrome XXXX Syndrome (Tetra-X Syndrome) Disorders of Sex Development Turner Syndrome 46, XY DSD Tuberous Sclerosis Neurofibromatosis Albright Hereditaire Osteodystrofie Cornelia de Lange Syndrome Saethre-Chotzen Syndrome 17p- Deletiesyndrome VCF Syndrome POLR3A Mutatie Ohdo Syndrome Jacobsen Syndrome / 11 q Syndrome Myrhe Syndrome CHARGE Syndrome 1q25-32 Deletie Bardet Biedl Syndrome Rett Syndrome 22q11 Deletion Syndrome Allan-Herndon-Dudley Syndrome Kallmann Syndrome Rare Bone Disorders Noonan Syndrome Williams-Beuren Syndrome||Diagnostic Test: Retrospective file studies|
|Study Type :||Observational|
|Estimated Enrollment :||600 participants|
|Official Title:||GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age|
|Actual Study Start Date :||October 1, 2018|
|Estimated Primary Completion Date :||January 1, 2030|
|Estimated Study Completion Date :||January 1, 2030|
- Diagnostic Test: Retrospective file studies
No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.
- Presence of physical health problems [ Time Frame: 1 year ]For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.
- Laboratory values [ Time Frame: 1 year ]For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc
- Physical and psychological complaints [ Time Frame: 1 year ]For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.
- Medication use [ Time Frame: 1 year ]Use of all medication
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04463316
|Erasmus Medical Center||Recruiting|
|Rotterdam, Zuid-Holland, Netherlands, 3015 GD|
|Contact: Laura CG de Graaff, MD, PhD +31618843010 email@example.com|
|Sub-Investigator: Sabine E Hannema|