Neurogenetics Patient Registry

Description

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

Neurogenetic Disorders

Study Overview

Study Details

Study overview

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.

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

Neurogenetics Patient Registry

Condition
Neurogenetic Disorders
Intervention / Treatment

-

Contacts and Locations

Pittsburgh

Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, United States, 15224

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Pittsburgh,

Deepa Soundara Rajan, MD, PRINCIPAL_INVESTIGATOR, University of Pittsburgh

Study Record Dates

2028-01