Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
University of Pittsburgh
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.
Description
This study will include individuals across the lifespan with molecularly confirmed GEMIN5 biallelic mutations. This study will be ongoing indefinitely. There are three main components to the study as are detailed below: 1. A retrospective chart review of UPMC medical records and other institutions' medical records, for all patients in the study. Families/patients will provide staff with a signed Release of Information, so that we can obtain a copy of the participants complete medical record which will be requested from previously treating physicians. This may include records from several di…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above Exclusion Criteria: * none
Interventions
- OtherGEMIN5-Related Neurodevelopmental Disorder
This is an observational study. The investigators will collect data from participants' medical records regarding neurodevelopmental outcomes (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), Time to event (Acquistion and loss of developmental milestones), and, if available, data regarding MRIs (presence of cerebellar atrophy), survival, visiion, hearing, and biomarkers of disease.
Location
- Children's Hospital of Pittsburgh of UPMCPittsburgh, Pennsylvania