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Recruiting NCT06776341

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

Conditions: SMN Complex Proteins, GEMIN5 Protein, Human, Neurodevelopmental Disorders

Sex: All

Healthy volunteers: No

Enrollment: 500

Sponsor: University of Pittsburgh

Location: Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania

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.

Eligibility Criteria

Inclusion Criteria: * Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above Exclusion Criteria: * none

Interested in this study? View the official listing for contact and enrollment details.

View on ClinicalTrials.gov

Source: ClinicalTrials.gov (NCT06776341). StuddyBuddy aggregates publicly available trial information.