Plain-English translation of NCT04463316 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
This study is looking back at the medical records of adults living with rare genetic syndromes to understand what health problems they face and what kind of care they need. Researchers want to learn about medications, side effects, quality of life, and how to better support adults with these conditions as they age.
For many years, people with rare genetic syndromes didn't survive to adulthood, so there are almost no guidelines for caring for adults with these conditions. Now that people are living longer, doctors and patients need clear information about what health issues to expect and how to manage them properly in adulthood.
You likely qualify if…
You likely don't qualify if…
This is a records-based study, so you would not need to attend special visits or take any new medications. Researchers will review your existing medical records to learn about your health history, treatments, and how your condition affects your daily life. Your participation helps build knowledge that will improve care for others living with rare genetic syndromes.
AI-generated summary from trial data · Jun 10, 2026 · Not medical advice
Netherlands
Sponsor
dr. Laura C. G. de Graaff-Herder
Enrollment target
~600 participants
Started
October 2018
Primary completion
January 2030
Age range
18 Years and older
Last updated on clinicaltrials.gov in September 2023.
Tell us you're interested and we'll help connect you with the research team. We'll walk you through what to expect first — no email needed to get started.