Frequency of SOD1 and C9orf72 Gene Mutations in French ALS

Amyotrophic Lateral Sclerosis Clinical Trial

— GENIALS  

Official title:

Frequency of SOD1 and C9orf72 Gene Mutations in French ALS

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04819555
• Other study ID #: RIPH3-RNI20-GENIALS
• Status: Completed
• Start date: April 30, 2021
• Est. completion date: May 15, 2023

Study information

• Verified date: November 2023
• Source: University Hospital, Tours
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1000
• Est. completion date: May 15, 2023
• Est. primary completion date: March 31, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Amyotrophic Lateral Sclerosis
• Motor Neuron Disease

Intervention

Genetic:
• Blood
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.

Locations

Country	Name	City	State
France	CHU Angers	Angers
France	CHU Bordeaux	Bordeaux
France	CHU de Brest	Brest
France	CHU Lyon	Bron
France	CHU Caen	Caen
France	CHU Clermont Ferrand	Clermont-Ferrand
France	CHU Dijon	Dijon
France	CHU Lille	Lille
France	CHU Limoges	Limoges
France	CHU Marseille	Marseille
France	CHU Montpellier	Montpellier
France	CHU Nancy	Nancy
France	CHU Nice	Nice
France	Paris - Groupe hospitalier de la Pitié Salpetrière	Paris
France	CHU de Rennes	Rennes
France	CHU La Réunion	Saint-Pierre
France	CHU St Etienne	Saint-Priest-en-Jarez
France	CHU Strasbourg	Strasbourg
France	CHU Toulouse	Toulouse
France	University hospital	Tours

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Tours	Biogen

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Baseline
Secondary	neurological examination	describe phenotype of ALS patients according to their genetic status with a neurological examination	12 months
Secondary	ALSFRS-r score	describe homogenous groups of ALS regarding ALSFRS-r score : slope of evolution of the ALSFRS-r score	12 months
Secondary	weight	describe homogenous groups of ALS regarding weight in kg	12 months
Secondary	Expiratory volume	describe homogenous groups of ALS regarding expiratory volume (FEV and LVC) in theoretical %.	12 months
Secondary	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.	Baseline
Secondary	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.	12 months