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Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder

Who can join

All ages · All sexes

Inclusion Criteria:

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

Exclusion Criteria:

* none

About the study

This study will include a comprehensive retrospective chart review and a longitudinal prospective observational natural history study to characterize the phenotypic spectrum of GEMIN5-Related Neurodevelopmental Disorder. We aim to define the trajectory of this ultra-rare disease, core clinical features, characteristics at disease onset and diagnosis, neurological symptomatology, and neuroimaging findings over time. In this study, biological specimens (serum) will also be collected in a biorepository for translational research purposes.

What is being tested

• GEMIN5-Related Neurodevelopmental Disorder (other)

Sponsor: University of Pittsburgh · Participants: 500 · Started: Jul 7, 2025

Contact the study team

• Kate Kielty, MD · Phone: 412-692-6350

Official record on ClinicalTrials.gov — NCT06776341

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.