Neurogenetics Patient Registry
Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository
University of Pittsburgh
1,000 participants
Jan 30, 2017
OBSERVATIONAL
Conditions
Summary
The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physical examination, laboratory testing including genetic testing (NextGen sequencing including whole exome and whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies - all ordered as clinically deemed appropriate, natural history from clinical longitudinal follow-up and to use de-identified information from this registry/ repository, when appropriate for clinical and translational research.
Eligibility
Inclusion Criteria2
- Patients evaluated at the Neurogenetics clinic and suspected to have an underlying neurogenetic disorder will be included.
- Patients with known abnormal genetic testing with a neurological phenotype will be included.
Exclusion Criteria1
- Patient with acquired diagnosis, which can explain the patients clinical symptoms and with a clinical phenotype or family history not suggestive of an underlying genetic etiology.
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT02995538