Study Purpose: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
Amyotrophic Lateral Sclerosis
Type of Intervention:
Study Chair(s)/Principal Investigator(s):
Philippe CORCIA, University Hospital, Tours
Coordinating Center Contact Information
Full Study Summary:
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.
University Hospital, Tours
Estimated Study Start Date:
04 / 30 / 2021
Estimated Study Completion Date:
06 / 01 / 2023
Posting Last Modified Date:
05 / 10 / 2023
Date Study Added to neals.org:
03 / 29 / 2021
- Adult aged ≥ 18 years old
- ALS defined, probable or likely based on neurophysiological data according to Airlie House criteria (Brooks, 2000)
- Sporadic ALS or familial ALS defined by the existence of a case of ALS or FTD among first or second degree relatives of the patient included (Byrne et al, 2011).
- Participant affiliated to a social security scheme
- Free, informed and signed consent for the examination of the genetic characteristics of the participant
- All conditions mimicking ALS including motor neuropathies with multiple conduction blocks and all cases of ALS that do not meet the criteria of the Airlie House classification.
- Patients who are cognitively incapable of signing the consent to participate in this study.
CHU St Etienne
CHU La Réunion
CHU de Rennes
Paris - Groupe hospitalier de la Pitié Salpetrière
CHU Clermont Ferrand
CHU de Brest