Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Pittsburgh
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 findings over time. In this study, biological specimens (serum) will also be collected in a biorepository for translational research purposes.
Eligibility criteria
Qualifiers
Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
Disqualifiers
none
Trial design
Treatments tested in this trial
- GEMIN5-Related Neurodevelopmental Disorder
Treatment groups
500 Participants
are divided into 1 treatment groupSponsors and collaborators
Source ClinicalTrials.gov