Actively Recruiting

All Genders
NCT02995538

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

All Genders

Eligibility Criteria

Eligible

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.
Not Eligible

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

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Trial Site Locations

Total: 1 location

1

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States, 15224

Actively Recruiting

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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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