An observational study in Prader-Willi Syndrome, PWS-like Syndrome and Silver Russel Syndrome, sponsored by dr. Laura C. G. de Graaff-Herder. Recruiting at 1 site in Netherlands. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2023-09-06.
Sponsored by dr. Laura C. G. de Graaff-Herder · Observational
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:
Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.
144 studies on the registry are indexed under Prader-Willi Syndrome; 23 are open to participants now.
This study's planned enrollment of 600 is above the median of 51 across 36 observational studies indexed under Prader-Willi Syndrome.
Browse Prader-Willi Syndrome studies →dr. Laura C. G. de Graaff-Herder is the lead sponsor of 3 studies on the registry; 3 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with complex genetic syndromes
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.
Presence of physical health problems
For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.
Time frame: 1 year
Laboratory values
For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc
Time frame: 1 year
Physical and psychological complaints
For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.
Time frame: 1 year
Medication use
Use of all medication
Time frame: 1 year
Plan to share: Undecided — Data available upon reasonable request.
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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dr. Laura C. G. de Graaff-Herder