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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
Sponsor:
Collaborator:
Biogen
Information provided by (Responsible Party):
University Hospital, Tours

Brief 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

Condition or disease Intervention/treatment
Amyotrophic Lateral Sclerosis Genetic: Blood

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. 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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort Intervention/treatment
adult patients with ALS
incident population of ALS patients followed in the FILSLAN centres.
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. 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.




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. neurological examination [ Time Frame: 12 months ]
    describe phenotype of ALS patients according to their genetic status with a neurological examination

  2. ALSFRS-r score [ Time Frame: 12 months ]
    describe homogenous groups of ALS regarding ALSFRS-r score : slope of evolution of the ALSFRS-r score

  3. weight [ Time Frame: 12 months ]
    describe homogenous groups of ALS regarding weight in kg

  4. Expiratory volume [ Time Frame: 12 months ]
    describe homogenous groups of ALS regarding expiratory volume (FEV and LVC) in theoretical %.

  5. 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.

  6. 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
Blood sample for examination of genetic features


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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
Study Population
incident population of ALS patients followed in the FILSLAN centres.
Criteria

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.

Information from the National Library of Medicine

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


Contacts
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Contact: Philippe CORCIA 02.47.47.37.24 ext +33 corcia@med.univ-tours.fr

Locations
Show Show 19 study locations
Sponsors and Collaborators
University Hospital, Tours
Biogen
Investigators
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Principal Investigator: Philippe CORCIA University Hospital, Tours
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Responsible Party: University Hospital, Tours
ClinicalTrials.gov Identifier: NCT04819555    
Other Study ID Numbers: RIPH3-RNI20-GENIALS
First Posted: March 29, 2021    Key Record Dates
Last Update Posted: May 11, 2021
Last Verified: May 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Tours:
Blood sample
Genetic features
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases