This study is looking to understand more about GEMIN5-Related Neurodevelopmental Disorder, a very rare condition. It's an observational study, meaning researchers will collect information about your health over time rather than testing a new treatment. They will gather data from your medical records, focusing on how the disorder affects development, like cognitive skills, speech, and movement. The goal is to learn about the typical course of the disorder, its key features, and how it changes over time. Researchers will also collect blood samples for future research. This study is open to individuals of all ages who have a confirmed genetic diagnosis of GEMIN5 biallelic mutations.

Study design

This is an observational study with a planned enrollment of 500 participants. It includes a review of past medical records and ongoing observation of participants over time.

What's involved

You would provide signed permission for researchers to access your complete medical records from various doctors. If you are seen at the UPMC Center for Neurogenomics clinic, clinical data from your visits will also be collected.

Compensation

Not stated in the trial record.

Follow-up

Neurodevelopmental outcomes will be measured at 26 years, and the study will be ongoing indefinitely.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.