- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03971292
Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
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.
Study Overview
Status
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
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Strasbourg, France, 67091
- Les Hôpitaux Universitaires de Strasbourg
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Contact:
- Nadège CALMELS
- Phone Number: +33 33 69 55 07 77
- Email: nadege.calmels@chru-strasbourg.fr
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Principal Investigator:
- Nadège CALMELS
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- ADULT
- OLDER_ADULT
- CHILD
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion criteria common to all participants:
- Patient minor or major
- Patient suffering from a pathology studied in the laboratory by high throughput sequencing: intellectual disability, myopathies, neurosensory disease (Bardet-Biedl syndrome, retinitis pigmentosa, ....), DNA repair diseases (Cockayne syndrome, ...)
- Sampling allowing the extraction of available RNA (or RNA available in the bank)
- Patient (or its legal representative) having already given their consent, on the one hand for carrying out genetic analyzes to determine the cause of their disease, and on the other hand for the conservation of part of their non used for further use in order to continue diagnostic investigations in the light of evolving knowledge and for research purposes.
- Patient (or its legal representative) agreeing to use data from his medical file and those associated with genetic diagnosis for research purposes
- Patient affiliated to a social security scheme Inclusion criteria for the test phase
- Pertogenous mutation (s) known Inclusion criteria for the prospective phase
- Magnetic molecular diagnosis, after the usual investigations (high-throughput sequencing of a panel of genes on genomic DNA, sequencing of exome, or even genome.
Non-inclusion criteria:
◾ Refusal of the patient (or his / her legal representative) to participate in the study.
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Validation phase
The project will proceed in two phases: a validation test phase including 5 patients of known genotype and a prospective phase including 10 patients.
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Testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing coding regions.
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Prospective phase
The project will proceed in two phases: a validation test phase including 5 patients of known genotype and a prospective phase including 10 patients.
|
Testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing coding regions.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
RNA sequencing
Time Frame: 3 years
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testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing of coding regions, and its integration into hospital routine in order to improve the diagnosis of heterogeneous genetic diseases.
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3 years
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Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (ANTICIPATED)
Primary Completion (ANTICIPATED)
Study Completion (ANTICIPATED)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ACTUAL)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 7004 (CTEP)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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