Using advanced genetic testing to improve diagnosis of neurological diseases
Implementation of Molecular Diagnostic Pathways in Neurological and Neurodegenerative Diseases
Neuromed IRCCS · NCT03084224
This study is testing if advanced genetic testing can help doctors better diagnose neurological diseases in patients who already show symptoms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1 (estimated) |
| Sex | All |
| Sponsor | Neuromed IRCCS (other) |
| Locations | 1 site (Pozzilli, Isernia) |
| Trial ID | NCT03084224 on ClinicalTrials.gov |
What this trial studies
This observational study aims to enhance the diagnostic process for neurological and neurodegenerative diseases by implementing Next Generation Sequencing (NGS) technologies. NGS allows for the analysis of multiple genes simultaneously, which can help identify new genetic variants and genes associated with these conditions. The study focuses on patients with documented clinical criteria for neurogenetic diseases, aiming to provide a more accurate molecular diagnosis. By identifying previously unrecognized genetic factors, the study seeks to improve patient care and treatment options.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with clinical criteria for neurogenetic diseases.
Not a fit: Patients without a clinical condition related to neurogenetic diseases will not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could lead to more accurate diagnoses and better-targeted treatments for patients with neurological diseases.
How similar studies have performed: Other studies utilizing Next Generation Sequencing have shown promise in identifying genetic factors in similar conditions, indicating a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical criteria for neurogenetic disease Exclusion Criteria: * absence of clinical condition
Where this trial is running
Pozzilli, Isernia
- Stefano Gambardella — Pozzilli, Isernia, Italy (RECRUITING)
Study contacts
- Principal investigator: Stefano Gambardella, PhD — IRCCS Neuromed INM
- Study coordinator: Stefano Gambardella, PhD
- Email: stefano.gambardela@neuromed.it
- Phone: 0039-0865-02660
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Genetic Disease