Neurogenetics Patient Registry

NCT02995538 | Recruiting

• 1 other identifier: STUDY19090278
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Outcome Measures

Primary Outcomes (1)

• Genetic testing

  Next generation sequencing, if clinically appropriate will be ordered through available commercial labs as approved by the patient's insurance company. If insurance coverage is denied research testing will be ordered after informed consent and pretesting counseling, to be done through our collaborative labs.

  Within approximately one year for each participant

Study Arms (1)

Neurogenetic Patients

The Neurogenetics Clinic, which started in 2016, provides clinical care for undiagnosed patients with complex neurological disorders in which a genetic etiology is considered and for children with diagnosed rare neurogenetic disorders - provide pre test counseling, diagnostic services for the undiagnosed patients and long-term management of patients with a wide range of diagnosed genetic disorders of the nervous system.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Neurogenetics Patients

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.

Sponsors & Collaborators

• University of Pittsburgh: lead

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples and tissue samples if available after completion of tests ordered on these patients for clinical purposes will be de-identified and stored to create a biorepository. DNA sample from genetic testing that is left over after appropriate clinical testing will be used for storage at the biorepository and for further appropriate research testing.

Study Officials

• Deepa Soundara Rajan, MD

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jennifer Baker, MA

CONTACT

412-69-26378; jennifer.baker@chp.edu

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 100 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: December 13, 2016
• First Posted: December 16, 2016
• Study Start: January 30, 2017
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2028
• Last Updated: March 6, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

US (1)