Frequency of SOD1 and C9orf72 Gene Mutations in French ALS

N/ACompletedNCT04819555

University Hospital, Tours1,000 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

1,000

Conditions

Amyotrophic Lateral Sclerosis

Interventions

BloodGENETIC

a blood sample will be taken during hospitalisation for diagnostic confirmation or during the quarterly multidisciplinary consultations scheduled as part of the standard follow-up set up for these patients in the ALS centres of the FILSLAN network. If the genetic status is not yet known, this sample will be taken (1 tube of 7mL EDTA) and then sent within 24-48 hours at room temperature to one of the 3 participating molecular biology laboratories according to the criteria defined in the manual of samples being taken in the 3 laboratories.

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (20)

CHU Angers

Angers, France

CHU Bordeaux

Bordeaux, France

CHU de Brest

Brest, France

Outcomes

Primary Outcomes

genetic characteristics

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

Time frame: Baseline

Secondary Outcomes

neurological examination

describe phenotype of ALS patients according to their genetic status with a neurological examination

Time frame: 12 months

ALSFRS-r score

describe homogenous groups of ALS regarding ALSFRS-r score : slope of evolution of the ALSFRS-r score

Time frame: 12 months

weight

describe homogenous groups of ALS regarding weight in kg

Time frame: 12 months

Expiratory volume

describe homogenous groups of ALS regarding expiratory volume (FEV and LVC) in theoretical %.

Time frame: 12 months

Therapeutic management

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.

Time frame: Baseline

Integration of the molecular study into the routine work-up

Compare the percentage of patients who have received genetic analysis to the number of new cases diagnosed in the ALS centres.

Time frame: 12 months

Data from ClinicalTrials.gov

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