Amyotrophic Lateral Sclerosis
Conditions
Keywords
Amyotrophic Lateral Sclerosis, Biomarkers, Ocular Surface, Tear
Brief summary
Amyotrophic Lateral Sclerosis (ALS) is the most common neurodegenerative disease affecting the motor neuron. Currently, there is no diagnostic test and no examination that can predict the evolution of this pathology. The search for diagnostic and prognostic biomarkers is therefore essential for a better understanding of the pathophysiology of ALS, which remains poorly understood, and also for better clinical management. The ocular surface, made up of liquid elements, tears, and cells, is an accessible anatomical-physiological entity that has demonstrated its usefulness in the identification of biomarkers in neurodegenerative diseases such as Parkinson's or Alzheimer's. To date, no study has explored the ocular surface as a biomarker in ALS
Interventions
OTHERMeasure of visual acuity
ETDRS and Parinaud scale
OTHERInterferometry
Non-contact exam measuring N.I.B.U.T (Non-invasive break-up time), quantitative and qualitative evaluation of the meibomian glands and quantitative evaluation of the tear meniscus
OTHERSamples of basal tears
Collection of basal tears without instillation of anesthetic with a Schirmer strip for 5 minutes and by microcapillary
OTHERCentral corneal sensitivity
Central corneal sensitivity using a Cochet-Bonnet esthesiometer (Luneau©)
OTHERSlit lamp examination and undilated fundus
Slit lamp examination and undilated fundus
Conjunctival impression with anesthetic instillation
OTHEREvaluation of the corneal innervation
Contact corneal confocal microscopy
Sponsors
University Hospital, Tours
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 100 Years
Healthy volunteers
Yes
Inclusion criteria
Case group selection criteria : Inclusion Criteria: * Patient with clinically defined or probable primary ALS according to Airlie House criteria(1) * Familial or sporadic form * ≥18 years of age * Patient affiliated with a social security plan * Informed consent signed by the patient
Exclusion criteria
* Motor neuron disease mimicking ALS * Pregnant or breastfeeding woman * Treatment that may have a neuroprotective effect * Any eye drops or treatments that may interfere with tear production * Lens wearer * Eye surgery ≤3 months * Any ocular pathology other than ametropia, oculomotor disorder, amblyopia * Any general pathology other than ALS with ocular repercussions * Protective measure of guardianship or curators Control group selection criteria: Inclusion Criteria: * No diagnosed neurological pathology * ≥18 years of age * Patient affiliated with a social security plan * Informed consent signed by the participant
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Lipidome profile in intra-cellular contents for the diagnosis and prognosis of ALS. | Baseline | Once the composition in lipids in conjunctival cells is determined, statistical univariate and multivariate analyses will aim to determine if the tear lipidome can cluster ALS patients and controls and therefore can be used as a diagnosis biomarker. |
| Metabolome profile in tears for the diagnosis and prognosis of ALS. | Baseline | Once the composition in metabolites (i.e. tear metabolome) is determined, statistical univariate and multivariate analyses will aim to determine if the tear metabolome can cluster ALS patients and controls and therefore can be used as a diagnosis biomarker |
| Metabolome profile in intra-cellular contents for the diagnosis and prognosis of ALS. | Baseline | Once the composition in metabolites in conjunctival cells is determined, statistical univariate and multivariate analyses will aim to determine if the tear metabome can cluster ALS patients and controls and therefore can be used as a diagnosis biomarker. |
| Lipidome profile in tears for the diagnosis and prognosis of ALS. | Baseline | Once the composition in lipids (i.e. tear lipidome) is determined, statistical univariate and multivariate analyses will aim to determine if the tear lipidome can cluster ALS patients and controls and therefore can be used as a diagnosis biomarker |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evolution of the ocular surface metabolites during ALS progression using ultra-high performance liquid chromatography coupled with mass spectrometry | Baseline | By carrying out a longitudinal analysis in ALS cases, the modification in tear and cells metabo-lipidome will be assessed at three time-points (at diagnosis, at month 3 and 6) and will correlated with bioclinical criteria of ALS progression (i.e. % of weight loss, % of slope of progression of the ALS-FRS-r score and % of decrease in forced vital capacity). This analysis will aim to search for analytes that can predict ALS progression (i.e. prognosis biomarker). |
| Evolution of the ocular surface lipids during ALS progression using ultra-high performance liquid chromatography coupled with mass spectrometry | Baseline | By carrying out a longitudinal analysis in ALS cases, the modification in tear and cells metabo-lipidome will be assessed at three time-points (at diagnosis, at month 3 and 6) and will correlated with bioclinical criteria of ALS progression (i.e. % of weight loss, % of slope of progression of the ALS-FRS-r score and % of decrease in forced vital capacity). This analysis will aim to search for analytes that can predict ALS progression (i.e. prognosis biomarker). |
Countries
France
Outcome results
None listed