Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
NCT ID: NCT04819555
Last Updated: 2023-11-30
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
1000 participants
OBSERVATIONAL
2021-04-30
2023-05-15
Brief Summary
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Detailed Description
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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.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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adult patients with ALS
incident population of ALS patients followed in the FILSLAN centres.
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.
Interventions
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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.
Eligibility Criteria
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Inclusion Criteria
* 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
* Patients who are cognitively incapable of signing the consent to participate in this study.
18 Years
ALL
No
Sponsors
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Biogen
INDUSTRY
University Hospital, Tours
OTHER
Responsible Party
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Principal Investigators
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Philippe CORCIA
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Tours
Locations
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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, , France
Countries
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Other Identifiers
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RIPH3-RNI20-GENIALS
Identifier Type: -
Identifier Source: org_study_id