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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT04621422
Other study ID # CHUBX 2019/51
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
Start date December 2020
Est. completion date January 2023

Study information

Verified date October 2020
Source University Hospital, Bordeaux
Contact Cyril Goizet
Phone 05 56 79 59 52
Email cyril.goizet@chu-bordeaux.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

Since 2012, NGS sequencing of long fragments or long reads has developed in various fields of research and today presents itself as a very promising alternative solution in the analysis of repeat amplifications. The Oxford Nanopore NGS automaton offers the prospect of bringing together 1st and 2nd line analyzes of all loci potentially indicated in neurogenetics at the same time. The project aims to compare the use of this new technology with methods currently used in reference laboratories. The main objective is to evaluate the ability of next-generation high-throughput Oxford Nanopore-type sequencing (NEURONGS3) to diagnose 9 neurogenetic diseases compared to reference protocols via PCR (+/- Southern blot). The secondary objective is to evaluate the repeatability of the NGS (intra-sample reproducibility) analysis in the diagnosis of 8 neurogenetic diseases.


Description:

Since 2012, NGS sequencing of long fragments or long reads has developed in various fields of research and today presents itself as a very promising alternative solution in the analysis of repeat amplifications. The Oxford Nanopore NGS automaton offers the prospect of bringing together 1st and 2nd line analyzes of all loci potentially indicated in neurogenetics at the same time. The project aims to compare the use of this new technology with methods currently used in reference laboratories. Multicenter cross-sectional early phase diagnostic study on already existing biological collections. Analyzes with the new technique (NGS) will be carried out blinded to the results obtained with the current reference algorithm based on the sequential performance of PCRs The main objective is to evaluate the ability of next-generation high-throughput Oxford Nanopore-type sequencing (NEURONGS3) to diagnose 9 neurogenetic diseases compared to reference protocols via PCR (+/- Southern blot). The secondary objective is to evaluate the repeatability of the NGS (intra-sample reproducibility) analysis in the diagnosis of 8 neurogenetic diseases.


Recruitment information / eligibility

Status Not yet recruiting
Enrollment 60
Est. completion date January 2023
Est. primary completion date June 2022
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - minors, adults and protected adults. - Subject carrying an amplification of nucleotide repeats in one of the following 9 genes FMR1, DMPK, ZNF9, SCA2, JPH3, HD, FXN, C9ORF72, RFC1 - DNA available in sufficient quantity (5 to 10 µg) Exclusion Criteria: - DNA degraded or of medium size <30kb, - Patient objection to research - This patient objection must be reached to the center's investigator within 1 maximum period of 1 month after sending the information note.

Study Design


Related Conditions & MeSH terms


Intervention

Biological:
Subject carrying an amplification of nucleotide repeats in one of the following 9 genes FMR1, DMPK, ZNF9, SCA2, JPH3, HD, FXN, C9ORF72, RFC1
Biological/Vaccine: DNA Samples collection as part of usual care

Locations

Country Name City State
n/a

Sponsors (1)

Lead Sponsor Collaborator
University Hospital, Bordeaux

Outcome

Type Measure Description Time frame Safety issue
Primary Proportion of patients tested positive by Next Generation Sequencing among all the patients tested positive by the current algorithm based on PCRs For each of the 9 considered diseases, the proportion will be established as well as its 95% confidence interval. through study completion, an average of 2 years
Secondary Difference between the number of repetition amplifications found by the Next Generation Sequencing method and the number of repetition amplifications found by the PCR diagnosis method For each of the 9 considered diseases, the number of repetition amplifications found by the Next Generation Sequencing method will be compared to the number of repetition amplifications found by the PCR diagnosis method using the Bland et Altman graphs. The average and standard deviation of the difference will be calculated. through study completion, an average of 2 years
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