Actively Recruiting
Neurogenetics Patient Registry
Led by University of Pittsburgh · Updated on 2026-03-06
1000
Participants Needed
1
Research Sites
569 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Neurogenetics Patient Registry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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 will not qualify if you...
- Patients with an acquired diagnosis that explains clinical symptoms and with no family history suggestive of a genetic cause.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
Research Team
J
Jennifer Baker, MA
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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