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Trial record 30 of 283 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

Tracking Information
First Submitted Date May 31, 2019
First Posted Date June 3, 2019
Last Update Posted Date June 3, 2019
Estimated Study Start Date June 2019
Estimated Primary Completion Date July 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 31, 2019)
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.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
Official Title Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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, ...)
Condition
  • DNA Sequencing
  • Diagnosis of Genetic Diseases of Heterogeneous Origin
Intervention Genetic: RNA sequencing
Testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing coding regions.
Study Groups/Cohorts
  • 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.
    Intervention: Genetic: RNA sequencing
  • 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.
    Intervention: Genetic: RNA sequencing
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: May 31, 2019)
15
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 2022
Estimated Primary Completion Date July 2019   (Final data collection date for primary outcome measure)
Eligibility 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.

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03971292
Other Study ID Numbers 7004
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party University Hospital, Strasbourg, France
Study Sponsor University Hospital, Strasbourg, France
Collaborators Not Provided
Investigators Not Provided
PRS Account University Hospital, Strasbourg, France
Verification Date May 2019