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Trial record 30 of 281 for:    Genetic Diseases, Inborn AND Genome

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

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ClinicalTrials.gov Identifier: NCT03971292
Recruitment Status : Not yet recruiting
First Posted : June 3, 2019
Last Update Posted : June 3, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Brief 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.


Condition or disease Intervention/treatment
DNA Sequencing Diagnosis of Genetic Diseases of Heterogeneous Origin Genetic: RNA sequencing

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Study Type : Observational
Estimated Enrollment : 15 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
Estimated Study Start Date : June 2019
Estimated Primary Completion Date : July 2019
Estimated Study Completion Date : July 2022

Resource links provided by the National Library of Medicine


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

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




Primary Outcome Measures :
  1. RNA sequencing [ Time Frame: 3 years ]
    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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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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, ...)
Criteria

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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03971292


Locations
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France
Les Hôpitaux Universitaires de Strasbourg Not yet recruiting
Strasbourg, France, 67091
Contact: Nadège CALMELS    +33 33 69 55 07 77    nadege.calmels@chru-strasbourg.fr   
Principal Investigator: Nadège CALMELS         
Sponsors and Collaborators
University Hospital, Strasbourg, France

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Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT03971292     History of Changes
Other Study ID Numbers: 7004
First Posted: June 3, 2019    Key Record Dates
Last Update Posted: June 3, 2019
Last Verified: May 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Genetic Diseases, Inborn