Neurogenetics Patient Registry
ConditionNeurogenetic Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Pittsburgh
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
Neurogenetics Patients
Trial design
Design model
Other
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
1,000 Participants
are grouped into 1 trial groupGroup A: Neurogenetic Patients
Trial outcomes
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.
Time frame
Within approximately one year for each participantSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov