Observing the health management of patients with rare genetic syndromes
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
This study looks at how patients with rare genetic syndromes like Prader-Willi and Klinefelter manage their health as they move from children's care to adult care to see what support they need.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Erasmus Medical Center Academic / other |
| Locations | 1 site (Rotterdam, South Holland) |
| Trial ID | NCT04463316 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with rare genetic syndromes, such as Prader-Willi Syndrome and Klinefelter Syndrome, who receive multidisciplinary care at a specialized outpatient clinic. The study aims to assess the complexities of managing these syndromes as patients transition from pediatric to adult care, highlighting the need for coordinated health management to address ongoing medical issues. By analyzing patient files, the study seeks to improve understanding of the long-term care needs of individuals with these conditions.
Who should consider this trial
Good fit: Ideal candidates include patients with rare genetic syndromes attending the multidisciplinary outpatient clinic at Erasmus Medical Center.
Not a fit: Patients with common genetic disorders or those not receiving care at the specified clinic may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance the quality of care and health outcomes for adults with rare genetic syndromes.
How similar studies have performed: While there may be limited studies focusing specifically on adult care for these syndromes, the approach of multidisciplinary management has shown promise in related fields.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Rotterdam, South Holland
- Erasmus Medical Center — Rotterdam, South Holland, Netherlands (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.