GROWing Up With Rare GENEtic Syndromes

Launched by DR. LAURA C. G. DE GRAAFF-HERDER · Jul 3, 2020

Keywords

ClinConnect Summary

The clinical trial titled "GROWing Up With Rare GENEtic Syndromes" is focused on understanding the medical needs of adults who have rare genetic syndromes. These syndromes can affect various parts of the body and often come with challenges such as intellectual disabilities. While improvements in healthcare have allowed many of these individuals to live longer, there hasn’t been enough support as they transition from pediatric to adult care. This study aims to gather information about their health issues, how these conditions impact their quality of life, and what medications they might need.

To participate in this trial, individuals must be patients with rare syndromes who are visiting a specialized outpatient clinic at Erasmus Medical Center. There are no specific exclusions, meaning anyone fitting this description can join. Participants can expect that their medical records will be reviewed to help create a better understanding of their needs, which could lead to improved healthcare plans for adults with these complex conditions in the future.

Gender

ALL

Eligibility 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