Frequency of SOD1 and C9orf72 Gene Mutations in French ALS (NCT04819555) | Clinical Trial Compass
CompletedNot Applicable
Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
France1,000 participantsStarted 2021-04-30
Plain-language 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
Who can participate
Age range18 Years
SexALL
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Inclusion Criteria:
* 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
Exclusion Criteria:
* 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.