Creating a database for neurogenetic disorders
Official title: Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository
Run by University of Pittsburgh · NCT02995538 · Data updated 2026-11-12
This study is creating a database to collect and store information from patients with suspected neurogenetic disorders to help improve research and understanding of these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | University of Pittsburgh Academic / other |
| Locations | 1 site (Pittsburgh, Pennsylvania) |
| Status | Recruiting |
| Started | January 30, 2017 |
| Main results expected | January 2027 |
| Study ends | January 2028 |
| Registry record updated | March 6, 2026 |
| Trial ID | NCT02995538 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients evaluated at the neurogenetics clinic who are suspected to have an underlying neurogenetic disorder.
✕Probably not a fit
Patients with acquired diagnoses that explain their clinical symptoms or with clinical phenotypes not suggestive of a genetic etiology may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This project aims to establish a comprehensive Neurogenetics patient database and biorepository that includes clinical information, genetic testing results, and longitudinal follow-up data for patients with suspected neurogenetic disorders. Patients seen in the neurogenetics clinic will be approached for participation, and informed consent will be obtained prior to data collection. The study will utilize de-identified information for clinical and translational research, enhancing our understanding of neurogenetic conditions. The database will also include specimens for further analysis, contributing to future research efforts.
Why it matters
Potential benefit: If successful, this initiative could significantly improve the understanding and treatment of neurogenetic disorders.
How similar studies have gone: Other studies have successfully established similar registries and biorepositories, indicating a promising approach to understanding neurogenetic disorders.
Who can join: the full rules
Show full inclusion / exclusion 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, which can explain the patients clinical symptoms and with a clinical phenotype or family history not suggestive of an underlying genetic etiology.
Where it's running
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Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States Recruiting
Study contacts
- Principal investigator: Deepa Soundara Rajan, MD — University of Pittsburgh
- Study coordinator: Jennifer Baker, MA
- Email: jennifer.baker@chp.edu
- Phone: 412-69-26378
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.