Amyotrophic Lateral SclerosisGENIALSNCT04819555
Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
An observational study of Amyotrophic Lateral Sclerosis, run by University Hospital, Tours at 20 sites in France.
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 Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Amyotrophic Lateral Sclerosis
- What is being tested?
- Blood
- How many people
- 1,000 participants
- Where
- 20 sitesFrance
- Study dates
- 30 Apr 2021to 15 May 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: incident population of ALS patients followed in the FILSLAN centres.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
20 sites in 1 country.
20 sites in 1 country
France20 sites
CHU Angers
Angers, 49000
CHU Bordeaux
Bordeaux, 33000
CHU de Brest
Brest, 29200
CHU Lyon
Bron, 69677
CHU Caen
Caen, 14000
CHU Clermont Ferrand
Clermont-Ferrand, 63000
CHU Dijon
Dijon, 21000
CHU Lille
Lille, 59000
CHU Limoges
Limoges, 87000
CHU Marseille
Marseille, 13000
CHU Montpellier
Montpellier, 34000
CHU Nancy
Nancy, 54000
CHU Nice
Nice, 06000
Paris - Groupe hospitalier de la Pitié Salpetrière
Paris, 75000
CHU de Rennes
Rennes, 35033
CHU La Réunion
Saint-Pierre, 97448
CHU St Etienne
Saint-Priest-en-Jarez, 42270
CHU Strasbourg
Strasbourg, 67000
CHU Toulouse
Toulouse, 31000
University hospital
Tours, 37000
About this study
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
Read the detailed 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.
- Conditions
- Amyotrophic Lateral Sclerosis
- Being tested
- Blood
- Keywords
- Blood sample, Genetic features
- Medical subject headings
- Amyotrophic Lateral Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| adult patients with ALS | incident population of ALS patients followed in the FILSLAN centres. Receives: Genetic: Blood |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Baseline
Secondary outcomes (6)
neurological examination
describe phenotype of ALS patients according to their genetic status with a neurological examination
Measured: 12 months
ALSFRS-r score
describe homogenous groups of ALS regarding ALSFRS-r score : slope of evolution of the ALSFRS-r score
Measured: 12 months
weight
describe homogenous groups of ALS regarding weight in kg
Measured: 12 months
Expiratory volume
describe homogenous groups of ALS regarding expiratory volume (FEV and LVC) in theoretical %.
Measured: 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.
Measured: 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.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Mar 2021
- Study start30 Apr 2021
- Primary completion31 Mar 2022
- Study completion15 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amyotrophic Lateral SclerosisStudies of the same condition, open and under way.
- More trials run by University Hospital, ToursThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Tours
- Sponsor type
- University, hospital or other
- Collaborators
- Biogen
- Responsible party
- Sponsor
- Investigators
- Philippe CORCIA, Principal investigator, University Hospital, Tours
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04819555
- Sponsor's protocol ID
- RIPH3-RNI20-GENIALS
- Acronym
- GENIALS
- Status last verified
- Nov 2023
- First submitted
- 17 Mar 2021
- Last updated
- 30 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 30 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
- ClinicalTrials.gov ID
- NCT04819555
- Acronym / sponsor ID
- GENIALS / RIPH3-RNI20-GENIALS
- Conditions
- Amyotrophic Lateral Sclerosis
- Keywords
- Blood sample, Genetic features
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,000 participants (actual)
- Lead sponsor
- University Hospital, ToursUniversity, hospital or other
- Collaborators
- Biogen
- Study start
- 30 Apr 2021 (actual)
- Primary completion
- 31 Mar 2022 (actual)
- Study completion
- 15 May 2023 (actual)
- First posted
- 29 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| adult patients with ALS | – | Genetic: Bloodincident population of ALS patients followed in the FILSLAN centres. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- incident population of ALS patients followed in the FILSLAN centres.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blooda 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 | adult patients with ALS |
Primary outcome
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
6 secondary outcomes
neurological examination
Time frame: 12 months
ALSFRS-r score
Time frame: 12 months
weight
Time frame: 12 months
Expiratory volume
Time frame: 12 months
Therapeutic management
Time frame: Baseline
Integration of the molecular study into the routine work-up
Time frame: 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Nov 2023.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Philippe CORCIA principal investigator
University Hospital, Tours
20 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amyotrophic Lateral Sclerosis, run by University Hospital, Tours at 20 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 20 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
genetic characteristics (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Nov 2023.