Frequency of SOD1 and C9orf72 Gene Mutations in French ALS

Completed

• Conditions: Amyotrophic Lateral Sclerosis
• Interventions: Genetic: Blood

• Registration Number: NCT04819555
• Lead Sponsor: University Hospital, Tours

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.

Study Timeline

• Study First Submitted: 2021-03-17
• Study First Submitted QC: 2021-03-25
• Study First Posted: 2021-03-29
• Study Start: 2021-04-30
• Primary Completion: 2022-03-31
• Study Completion: 2023-05-15
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-29
• Last Update Posted: 2023-11-30

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1000

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
adult patients with ALS	Blood	incident population of ALS patients followed in the FILSLAN centres.

Primary Outcome Measures

Name	Time	Method
genetic characteristics	Baseline	frequency of mutations in the C9orf72 and SOD1 genes in the ALS patient population having follow-up for care within the FILSLAN centers French network

Secondary Outcome Measures

Name	Time	Method
ALSFRS-r score	12 months	describe homogenous groups of ALS regarding ALSFRS-r score : slope of evolution of the ALSFRS-r score
weight	12 months	describe homogenous groups of ALS regarding weight in kg
Expiratory volume	12 months	describe homogenous groups of ALS regarding expiratory volume (FEV and LVC) in theoretical %.
Therapeutic management	Baseline	Calculate the average time elapsed between the request for a molecular diagnosis by the ALS centre and the sending of the result. This will demonstrate the fluidity of the procedure and the ability to quickly inform the patient and the requesting clinician of the genetic status which will be essential to rapidly include patients in targeted gene therapy trials.
Integration of the molecular study into the routine work-up	12 months	Compare the percentage of patients who have received genetic analysis to the number of new cases diagnosed in the ALS centres.
neurological examination	12 months	describe phenotype of ALS patients according to their genetic status with a neurological examination

Trial Locations

Locations (20)

CHU Nancy; 🇫🇷 Nancy, France

CHU La Réunion; 🇫🇷 Saint-Pierre, France

CHU Nice; 🇫🇷 Nice, France

CHU Lyon; 🇫🇷 Bron, France

CHU Clermont Ferrand; 🇫🇷 Clermont-Ferrand, France

CHU Dijon; 🇫🇷 Dijon, France

CHU Montpellier; 🇫🇷 Montpellier, France

CHU de Rennes; 🇫🇷 Rennes, France

CHU Toulouse; 🇫🇷 Toulouse, France

CHU Bordeaux; 🇫🇷 Bordeaux, France

CHU Lille; 🇫🇷 Lille, France

CHU St Etienne; 🇫🇷 Saint-Priest-en-Jarez, France

CHU Marseille; 🇫🇷 Marseille, France

University hospital; 🇫🇷 Tours, France

CHU Angers; 🇫🇷 Angers, France

CHU de Brest; 🇫🇷 Brest, France

CHU Caen; 🇫🇷 Caen, France

Paris - Groupe hospitalier de la Pitié Salpetrière; 🇫🇷 Paris, France

CHU Limoges; 🇫🇷 Limoges, France

CHU Strasbourg; 🇫🇷 Strasbourg, France