ClinicalTrials.gov record NCT04463316
GROWing Up With Rare GENEtic Syndromes
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a retrospective file study of adults with a range of rare genetic syndromes seen in a multidisciplinary clinic. It reviews past medical records to map physical and psychological health problems, laboratory results, medication use, and their impact on quality of life. The goal is an overview of adult medical needs to inform future best practices and possible guideline development.
What it is studying. The study examines past clinical records to document which physical health problems, lab abnormalities, symptoms, and medications occur in adults with various rare genetic syndromes and how these relate to quality of life.
What the researchers hope to learn. To create an overview of medical needs in adults with rare genetic syndromes, including common comorbidities, laboratory patterns, symptom burden, medication use, and whether medication dosing may need syndrome-specific adjustment; to inform best-practice summaries and possible future adult care guidelines.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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:
- comorbidities
- 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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Diagnostic test
- Retrospective file studies
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.
Exclusion criteria
- None
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a retrospective file study: researchers will review existing clinical records from the clinic, including medical history, laboratory results, prior tests, notes on physical and psychological complaints, and medication use. No new tests, procedures, or interventions are performed as part of the study. Participation therefore involves allowing the study team to use information already in the patient's medical file.
How the study is structured. A retrospective observational cohort: researchers review existing medical files (history, lab results, tests, reported symptoms, and medications). No experimental treatments are given and participation involves only use of past clinical data.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Netherlands. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Bardet-Biedl syndrome
This trial is also listed on this site under congenital adrenal hyperplasia, Prader-Willi syndrome, Rett syndrome and tuberous sclerosis complex.
Important dates
- Study start
- Oct 1, 2018
- Primary completion
- Jan 1, 2030 (estimated)
- Study completion
- Jan 1, 2030 (estimated)
- Target enrollment
- 600 participants (estimated)
- Last updated on registry
- Sep 6, 2023
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- dr. Laura C. G. de Graaff-Herder
Participating sites (1)
- Erasmus Medical CenterRecruiting
Rotterdam, South Holland, 3015 GD · Netherlands
- Laura CG de Graaff, MD, PhD · +31618843010 · l.degraaff@erasmusmc.nl
- Sabine E Hannema
Terms used on this page · explanations by MedicalUpdates.ai
- life expectancy
- Some studies require that, in the investigator's judgement, a participant is likely to live long enough to complete the study period. It is a study requirement, not a prediction about any individual.
- follow up
- The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
← Back to clinical trials