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Frequency of SOD1 and C9orf72 Gene Mutations in French ALS — GENIALS  

Amyotrophic Lateral Sclerosis Clinical Trial

Official title:
Frequency of SOD1 and C9orf72 Gene Mutations in French ALS

Clinical Trial Summary

The purpose of the study is to determine the frequency of mutations in the C9orf72 and SOD1 genes in the incident population of ALS patients followed in the FILSLAN centres

Clinical Trial Description

After obtaining free and informed consent for genetic characteristic tests, a blood sample will be taken during hospitalisation for diagnostic confirmation or during the quarterly multidisciplinary consultations planned for these patients in the classic follow-up set up within the ALS centres of the FILSLAN network if the genetic status is not already known. This sample will be integrated into the standard management of ALS patients, which includes a neurological examination and paraclinical explorations, including a biological assessment. The patient will then be reviewed during the standard multidisciplinary follow-up consultations. Information to the patient on his or her C9orf72 or SOD1 genetic status will be included in the quarterly multidisciplinary consultations for the classic follow-up of ALS patients. It should also be noted that the data (ALSFRS-r score, weight, FEV) collected during the 6 and 12 month consultations will be processed for the purposes of this research. For patients included in the quarterly multidisciplinary consultations planned in the classic follow-up, if the genetic blood sample was taken during the initial hospitalisation for diagnosis, then it will not be repeated in the framework of the research. In this case, the genetic status of C9orf72 or SOD1 will be available at the inclusion visit and the patient will receive specific information about his or her genetic status. Consent for the research will nevertheless be obtained in order to have the patient's agreement to the processing of their health data for the purposes of the research at inclusion, 6 months and 12 months. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT04819555
Study type Observational
Source University Hospital, Tours
Contact
Status Completed
Phase
Start date April 30, 2021
Completion date May 15, 2023
View Details
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