NCT04819555

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Apr 2021

Typical duration for all trials

Geographic Reach
1 country

20 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 17, 2021

Completed
12 days until next milestone

First Posted

Study publicly available on registry

March 29, 2021

Completed
1 month until next milestone

Study Start

First participant enrolled

April 30, 2021

Completed
11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 31, 2022

Completed
1.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

May 15, 2023

Completed
Last Updated

November 30, 2023

Status Verified

November 1, 2023

Enrollment Period

11 months

First QC Date

March 17, 2021

Last Update Submit

November 29, 2023

Conditions

Amyotrophic Lateral Sclerosis

Keywords

Blood sampleGenetic features

Outcome Measures

Primary Outcomes (1)

  • 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

    Baseline

Secondary Outcomes (6)

  • neurological examination

    12 months

  • ALSFRS-r score

    12 months

  • weight

    12 months

  • Expiratory volume

    12 months

  • Therapeutic management

    Baseline

  • +1 more secondary outcomes

Study Arms (1)

adult patients with ALS

incident population of ALS patients followed in the FILSLAN centres.

Genetic: Blood

Interventions

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.

adult patients with ALS

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

incident population of ALS patients followed in the FILSLAN centres.

You may qualify if:

  • 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

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (20)

CHU Angers

Angers, 49000, France

Location

CHU Bordeaux

Bordeaux, 33000, France

Location

CHU de Brest

Brest, 29200, France

Location

CHU Lyon

Bron, 69677, France

Location

CHU Caen

Caen, 14000, France

Location

CHU Clermont Ferrand

Clermont-Ferrand, 63000, France

Location

CHU Dijon

Dijon, 21000, France

Location

CHU Lille

Lille, 59000, France

Location

CHU Limoges

Limoges, 87000, France

Location

CHU Marseille

Marseille, 13000, France

Location

CHU Montpellier

Montpellier, 34000, France

Location

CHU Nancy

Nancy, 54000, France

Location

CHU Nice

Nice, 06000, France

Location

Paris - Groupe hospitalier de la Pitié Salpetrière

Paris, 75000, France

Location

CHU de Rennes

Rennes, 35033, France

Location

CHU La Réunion

Saint-Pierre, 97448, France

Location

CHU St Etienne

Saint-Priest-en-Jarez, 42270, France

Location

CHU Strasbourg

Strasbourg, 67000, France

Location

CHU Toulouse

Toulouse, 31000, France

Location

University hospital

Tours, 37000, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample for examination of genetic features if required

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesMotor Neuron DiseaseNeurodegenerative DiseasesTDP-43 ProteinopathiesNeuromuscular DiseasesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Philippe CORCIA

    University Hospital, Tours

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 17, 2021

First Posted

March 29, 2021

Study Start

April 30, 2021

Primary Completion

March 31, 2022

Study Completion

May 15, 2023

Last Updated

November 30, 2023

Record last verified: 2023-11

Locations

FR(20)