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Neurogenetics Patient Registry

Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository

Who can join

All ages · All sexes

Inclusion Criteria:

* 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 Criteria:

* 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.

About the study

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.

Sponsor: University of Pittsburgh · Participants: 1,000 · Started: Jan 30, 2017

Contact the study team

• Jennifer Baker, MA · Phone: 412-69-26378

Official record on ClinicalTrials.gov — NCT02995538

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.