Frequency of SOD1 and C9orf72 Gene Mutations in French ALS (GENIALS)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT04819555|
Recruitment Status : Active, not recruiting
First Posted : March 29, 2021
Last Update Posted : June 23, 2022
- Study Details
- Tabular View
- No Results Posted
- How to Read a Study Record
|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 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|
|Actual Enrollment :||1000 participants|
|Official Title:||Frequency of SOD1 and C9orf72 Gene Mutations in French ALS|
|Actual Study Start Date :||April 30, 2021|
|Actual Primary Completion Date :||March 31, 2022|
|Estimated Study Completion Date :||April 2023|
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. 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.
- 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||18 Years and older (Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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
- 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.
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
|Principal Investigator:||Philippe CORCIA||University Hospital, Tours|
|Responsible Party:||University Hospital, Tours|
|Other Study ID Numbers:||
|First Posted:||March 29, 2021 Key Record Dates|
|Last Update Posted:||June 23, 2022|
|Last Verified:||June 2022|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases