MedTrace Logo

Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases

NCT03971292 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 15

Last updated 2019-06-03

No results posted yet for this study

Summary

The advent of high throughput genomic DNA sequencing has led to major advances in the diagnosis of genetic diseases of heterogeneous origin. Thus, our hospital laboratory has developed in recent years several diagnostic tests based on the targeted sequencing of coding sequences of gene panels (from about twenty genes for DNA repair diseases to nearly five hundred genes for the intellectual disability). These targeted analyzes, carried out by capture, have thus solved 25 to 80% of the cases according to the indications, without allowing the diagnosis of the totality of the patients.

For these negative cases, the search for mutations in the coding sequences was then extended to Whole Exome Sequencing, thus providing several additional diagnoses.

Patients still remain without diagnosis after this exome study. These could be complex cases of genetic or even non-genetic origin, but also monogenic pathologies linked to mutations that are not identifiable by coding sequence analyzes, and especially affecting messenger RNAs.

Conditions

  • DNA Sequencing
  • Diagnosis of Genetic Diseases of Heterogeneous Origin

Interventions

GENETIC

RNA sequencing

Testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing coding regions.

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-06-30
Primary Completion
2019-07-31
Completion
2022-07-31

Countries

  • France

Study Locations

More Related Trials

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 NCT03971292 on ClinicalTrials.gov