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Implementation of Molecular Diagnostic Pathways

NCT03084224 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1

Last updated 2022-04-28

No results posted yet for this study

Summary

For some neurological and neurodegenerative diseases genetic inheritance is well documented (described as Mendelian or multifactorial), but sometimes specific mutations or family segregation evidences have not been identified. Considering this scenario, most of the times it is impossible or unlikely to identify the responsible gene, or the private mutation, of a patient affected by a neurodegenerative disease.

New technologies such as Next Generation Sequencing (NGS), allow the analysis of hundreds of genes in a single experiment. The implementation of these technologies will help to identify new genes and new variants associated with neurological diseases. Using this approach, several molecular genetic diagnosis will definitely find the needle in a haystack, and will be able to be used in the clinical practice.

Conditions

Interventions

GENETIC

neurological and neurodegenerative diseases

NGS on a large scale of Patients with complexes phenotypes

Sponsors & Collaborators

  • Neuromed IRCCS

    lead OTHER

Principal Investigators

  • Stefano Gambardella, PhD · IRCCS Neuromed INM

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-12-01
Primary Completion
2022-12-01
Completion
2025-12-31

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03084224 on ClinicalTrials.gov