GROWing Up With Rare GENEtic Syndromes
Study Purpose
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.
Recruitment Criteria
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Accepts Healthy Volunteers
Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms |
No |
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Study Type
An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies. |
Observational |
| Eligible Ages | 18 Years and Over |
| Gender | All |
Trial Details
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Trial ID:
This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries. |
NCT04463316 |
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Phase
Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use. |
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Lead Sponsor
The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data. |
dr. Laura C. G. de Graaff-Herder |
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Principal Investigator
The person who is responsible for the scientific and technical direction of the entire clinical study. |
N/A |
| Principal Investigator Affiliation | N/A |
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Agency Class
Category of organization(s) involved as sponsor (and collaborator) supporting the trial. |
Other |
| Overall Status | Recruiting |
| Countries | Netherlands |
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Conditions
The disease, disorder, syndrome, illness, or injury that is being studied. |
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 |
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