Clinical trial NCT04819555: Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
Official title: Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Amyotrophic Lateral Sclerosis
Keywords: Blood sample
Genetic features
Lead sponsor: University Hospital, Tours
Sponsor class: OTHER
Collaborators: name: Biogen
First posted: 2021-03-29
Enrollment: 1000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: incident population of ALS patients followed in the FILSLAN centres.

Brief 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

Detailed 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.

Eligibility criteria: 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.

Primary outcomes:
measure: genetic characteristics
timeFrame: Baseline
Secondary outcomes:
measure: neurological examination
timeFrame: 12 months
measure: ALSFRS-r score
timeFrame: 12 months
measure: weight
timeFrame: 12 months
measure: Expiratory volume
timeFrame: 12 months
measure: Therapeutic management
timeFrame: Baseline
measure: Integration of the molecular study into the routine work-up
timeFrame: 12 months
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Bordeaux
country: France
facility: CHU Bordeaux
city: Brest
country: France
facility: CHU de Brest
city: Bron
country: France
facility: CHU Lyon
city: Caen
country: France
facility: CHU Caen
city: Clermont-Ferrand
country: France
facility: CHU Clermont Ferrand
city: Dijon
country: France
facility: CHU Dijon
city: Lille
country: France
facility: CHU Lille
city: Limoges
country: France
facility: CHU Limoges
city: Marseille
country: France
facility: CHU Marseille
city: Montpellier
country: France
facility: CHU Montpellier
city: Nancy
country: France
facility: CHU Nancy
city: Nice
country: France
facility: CHU Nice
city: Paris
country: France
facility: Paris - Groupe hospitalier de la Pitié Salpetrière
city: Rennes
country: France
facility: CHU de Rennes
city: Saint-Pierre
country: France
facility: CHU La Réunion
city: Saint-Priest-en-Jarez
country: France
facility: CHU St Etienne
city: Strasbourg
country: France
facility: CHU Strasbourg
city: Toulouse
country: France
facility: CHU Toulouse
city: Tours
country: France
facility: University hospital
Study officials:
affiliation: University Hospital, Tours
name: Philippe CORCIA
role: PRINCIPAL_INVESTIGATOR
References: