Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

GEMIN5 Protein, Human, Neurodevelopmental Disorders, SMN Complex Proteins

GEMIN5, Neurodevelopmental Disorders

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.

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 disciplines, for example neurological and physical exams, neurodevelopmental testing (cognitive, motor, language and daily living skills), growth parameters, results to previous genetic testing, MRI, lab results including lumbar puncture studies, audiologic exam, vision screening, nerve conduction studies, ophthalmologic exam, swallow studies, co-morbidities, and family history. 2. An observational, longitudinal prospective study of patients seen at the UPMC Center for Neuogenomics (CCNG) clinic. Clinical data obtained as part of a typical CCNG visit include vital signs, measurements (weight, head circumference, length), a developmental history, neurodevelopmental testing (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), and a comprehensive neurological exam, including an ataxia rating scale. Additionally, any neurodiagnostic results obtained clinically are reviewed if available, such as MRI brain and spine, EEG, and nerve conductions studies. 3. Patients who are seen at the CCNG clinic in person may opt to submit an optional research biological samples. Primary endpoint: Neurodevelopmental outcomes Secondary endpoint (if available): MRI - presence of cerebellar atrophy Survival Vision Hearing Biomarkers of disease

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