Contribution of New Generation Oxford Nanopore-type High-throughput Sequencing in the Diagnostic Strategy of Neurogenetic Diseases.
NEURONGS3
1 other identifier
observational
60
0 countries
N/A
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Dec 2020
Typical duration for all trials
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
October 12, 2020
CompletedFirst Posted
Study publicly available on registry
November 9, 2020
CompletedStudy Start
First participant enrolled
December 1, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 1, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
January 1, 2023
CompletedNovember 9, 2020
October 1, 2020
1.5 years
October 12, 2020
November 3, 2020
Conditions
Outcome Measures
Primary Outcomes (1)
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 Outcomes (1)
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
through study completion, an average of 2 years
Interventions
Biological/Vaccine: DNA Samples collection as part of usual care
Eligibility Criteria
Subject carrying an amplification of nucleotide repeats in one of the following 9 genes FMR1, DMPK, ZNF9, SCA2, JPH3, HD, FXN, C9ORF72, RFC1
You may qualify if:
- 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)
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Biospecimen
5 to 10 µg of DNA samples per patient.
MeSH Terms
Interventions
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Cyril Goizet
University Hospital, Bordeaux
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 12, 2020
First Posted
November 9, 2020
Study Start
December 1, 2020
Primary Completion
June 1, 2022
Study Completion
January 1, 2023
Last Updated
November 9, 2020
Record last verified: 2020-10
Data Sharing
- IPD Sharing
- Will not share