Neurogenetics Patient Registry

Conditions

• Neurogenetic Disorders

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jan 30, 2017

Status verified

Mar 2026

Primary completion

Jan 31, 2027

Completion

Jan 31, 2028

Study Design

Enrollment

1,000 participants (estimated)

Arms

• Arm: 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

• Jennifer Baker, MA
  412-69-26378
  [email protected]

Locations (1)

Find similar trials in Pittsburgh, PA

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