Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Recruiting
Observational Study
SMN Complex Proteins
GEMIN5 Protein, Human
Neurodevelopmental Disorders
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 500 (estimated)
- Sponsor
- University of Pittsburgh · Other
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About This Trial
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 f…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
Exclusion Criteria:
* none
Contacts