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Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Sponsor: University of Pittsburgh
Summary
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.
Official title: Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2025-07-07
Completion Date
2050-12
Last Updated
2025-08-12
Healthy Volunteers
No
Interventions
GEMIN5-Related Neurodevelopmental Disorder
This is an observational study. The investigators will collect data from participants' medical records regarding neurodevelopmental outcomes (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), Time to event (Acquistion and loss of developmental milestones), and, if available, data regarding MRIs (presence of cerebellar atrophy), survival, visiion, hearing, and biomarkers of disease.
Locations (1)
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States