Neurogenetics Patient Registry for Genetic Disorders
Neurogenetics Patient Registry
Recruiting
Observational Study
Neurogenetic Disorders
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Sex
Any
Study type
Observational
Participants needed
1,000 (estimated)
Sponsor
University of Pittsburgh · Other
Who this trial is looking for
This trial is looking for patients who may have neurogenetic disorders. Participants will provide clinical information and may undergo genetic testing as part of the research.
Are You a Good Fit for This Trial?
You may be able to join if
I have been evaluated at the Neurogenetics clinic.
I suspect I have an underlying neurogenetic disorder.
I have known abnormal genetic testing related to my neurological symptoms.
You may not be able to join if
I have an acquired diagnosis that explains my symptoms.
My clinical symptoms or family history do not suggest a genetic reason.
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer three quick questions written from this study's own rules to see if you may qualify. No account needed to find out.
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 appropria…
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.
Trial Locations
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Status
Eligibility Criteria
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, wh…
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.
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