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Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

NCT04152876 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 300

Last updated 2019-11-05

No results posted yet for this study

Summary

The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.

The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.

Conditions

Sponsors & Collaborators

  • Institute of Genetics and Biophysics CNR

    collaborator UNKNOWN

  • Neuromed IRCCS

    lead OTHER

Principal Investigators

  • Diego Centonze, MD · Head of Neurology Unit

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-10-31
Primary Completion
2021-07-31
Completion
2022-07-31

Countries

  • Italy

Study Locations

More Related Trials

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 NCT04152876 on ClinicalTrials.gov