Understanding how GEMIN5-related neurodevelopmental disorder develops over time

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational project combines a retrospective chart review with a prospective longitudinal clinic follow-up to define the clinical features and course of GEMIN5-related neurodevelopmental disorder. Investigators will review past medical records from UPMC and other treating institutions and will perform standardized clinical visits at the UPMC Center for Neuogenomics to capture growth, neurological exams, developmental testing, and neurodiagnostic results. Serum samples will be banked in a biorepository to support future translational research. The study enrolls individuals of any age with molecularly confirmed biallelic GEMIN5 mutations and will continue ongoing data collection over time.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above

Exclusion Criteria:

* none

Where it's running

• Children's Hospital of Pittsburgh of UPMC
  Pittsburgh, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Kate Kielty, MD — University of Pittsburgh
• Study coordinator: Kate Kielty, MD
• Email: CCNG@chp.edu
• Phone: 412-692-6350

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.