Frequency of SOD1 and C9orf72 Gene Mutations in French ALS (GENIALS)
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|ClinicalTrials.gov Identifier: NCT04819555|
Recruitment Status : Recruiting
First Posted : March 29, 2021
Last Update Posted : May 11, 2021
|Condition or disease||Intervention/treatment|
|Amyotrophic Lateral Sclerosis||Genetic: Blood|
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. 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.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Frequency of SOD1 and C9orf72 Gene Mutations in French ALS|
|Actual Study Start Date :||April 30, 2021|
|Estimated Primary Completion Date :||April 2022|
|Estimated Study Completion Date :||April 2022|
adult patients with ALS
incident population of ALS patients followed in the FILSLAN centres.
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. 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.
- genetic characteristics [ Time Frame: 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
- neurological examination [ Time Frame: 12 months ]describe phenotype of ALS patients according to their genetic status with a neurological examination
- ALSFRS-r score [ Time Frame: 12 months ]describe homogenous groups of ALS regarding ALSFRS-r score : slope of evolution of the ALSFRS-r score
- weight [ Time Frame: 12 months ]describe homogenous groups of ALS regarding weight in kg
- Expiratory volume [ Time Frame: 12 months ]describe homogenous groups of ALS regarding expiratory volume (FEV and LVC) in theoretical %.
- Therapeutic management [ Time Frame: 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 [ Time Frame: 12 months ]Compare the percentage of patients who have received genetic analysis to the number of new cases diagnosed in the ALS centres.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04819555
|Contact: Philippe CORCIA||02.47.47.37.24 ext +firstname.lastname@example.org|
|Principal Investigator:||Philippe CORCIA||University Hospital, Tours|