Actively Recruiting
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Led by University of Pittsburgh · Updated on 2025-08-12
500
Participants Needed
1
Research Sites
1325 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
Research Team
K
Kate Kielty, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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