Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

RecruitingOBSERVATIONAL
Enrollment

500

Participants

Timeline

Start Date

July 7, 2025

Primary Completion Date

December 31, 2050

Study Completion Date

December 31, 2050

Conditions
SMN Complex ProteinsGEMIN5 Protein, HumanNeurodevelopmental Disorders
Interventions
OTHER

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.

Trial Locations (1)

15224

RECRUITING

Children's Hospital of Pittsburgh of UPMC, Pittsburgh

All Listed Sponsors
lead

University of Pittsburgh

OTHER

NCT06776341 - Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder | Biotech Hunter | Biotech Hunter