Neurogenetics Patient Registry

Recruiting now

Conditions studied: Neurogenetic Disorders

In brief

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.

Key facts

Study ID

NCT02995538

Run by

University of Pittsburgh

People needed

1000

Starts

2017-01-30

Expected to finish

2028-01-01

Last updated by the study team

2026-03-06

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States (enrolling)

Full record on ClinicalTrials.gov

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