Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

Recruiting now

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

In brief

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.

Key facts

Study ID

NCT06776341

Run by

University of Pittsburgh

People needed

500

Starts

2025-07-07

Expected to finish

2050-12-01

Last updated by the study team

2026-07-09

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

• none

Where it is running

• Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States (enrolling)

Full record on ClinicalTrials.gov

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