Recruiting

Observational Study

Sponsor:

University of Pittsburgh

Code:

NCT02995538

Conditions

Neurogenetic Disorders

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT02995538

Start date

Jan 30, 2017

Status verified date

Mar, 2026

Completion date

Jan, 2028

Anticipated

Primary completion date

Jan, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion 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.

Exclusion Criteria:

  • 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.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Genetic testing [ Time Frame: Within approximately one year for each participant ]

Central Contacts and Locations

Central contacts

Jennifer Baker, MA

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

Locations

Children's Hospital of Pittsburgh of UPMC

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Jennifer Baker, MA

412-692-6378jennifer.baker@chp.edu

Principal Investigator:

Deepa Soundara Rajan, MD

More Information

Sponsor

University of Pittsburgh

Last update posted

Mar 6, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Pittsburgh on 2026-03-06.