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Report for Clinical Trial NCT01992029

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Etude de l'Expression Des Micro-RNA Comme Biomarqueur Diagnostic et Pronostic Dans la Sclérose Latérale Amyotrophique

The principal goal is to demonstrate that a specific pattern of microRNA (miRNA) expression can be correlated with the definite diagnostic of Amyotrophic Lateral Sclerosis (ALS). The investigators will use biological sample (from muscle biopsy, Cerebrospinal Fluid (CSF) and blood sample) collected in three control populations: definite ALS patients according to El Escorial diagnostic criterion, control patients without any neurological disease having an orthopedic surgery for shoulder disease, and control patient explored for peripheral neuropathy and myopathy. A second goal will correlate the miRNA pattern to the severity and/or progression rate of the motor neurons define as the progression rate of the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) score/year.

NCT01992029 Amyotrophic Lateral Sclerosis ALS
MeSH:Motor Neuron Disease Amyotrophic Lateral Sclerosis Sclerosis
HPO:Abnormal anterior horn cell morphology Amyotrophic lateral sclerosis

9 Interventions

Name: Clinical evaluation

Description: Clinical evaluation using MRC scale, Norris bulbar scale, ALSFRS score and respiratory evaluation ( Vital Capacity, PiMax and SNIP) at M0, M4, M8, M12
Type: Other
Group Labels: 1

ALS Patients

Name: Muscular biopsy

Description: Muscular biopsy at M0
Type: Procedure
Group Labels: 1

ALS Patients

Name: Lumbar puncture

Description: Lumbar puncture at M0 and M12
Type: Procedure
Group Labels: 1

ALS Patients

Name: Blood sampling

Description: Blood sampling at M0, M4, M4, M8 and M12
Type: Procedure
Group Labels: 1

ALS Patients

Name: Neurological assessments

Description: Neurological assessments (MRC score and cognitive scales: MMS and BREF)
Type: Other
Group Labels: 3

Control patients suffering from myopathy Control patients suffering from neuropathy Control subjects

Name: Neuro-muscular biopsy and lumbar puncture

Description: Neuro-muscular biopsy and lumbar puncture for patients explored for peripheral neuropathy
Type: Procedure
Group Labels: 1

Control patients suffering from neuropathy

Name: Muscular biopsy

Description: Muscular biopsy for patient explored for myopathy
Type: Procedure
Group Labels: 2

Control patients suffering from myopathy Control subjects

Name: Blood sample

Description: Blood sample for qRT PCR, detection and quantification for miRNA
Type: Procedure
Group Labels: 3

Control patients suffering from myopathy Control patients suffering from neuropathy Control subjects

Name: Cervical spinal cord and brain MRI

Description: ALS patients : MRI at inclusion and Month 8 Control patients suffering from neuropathy : MRI at inclusion and Month 8 Control patients suffering from myopathy : MRI at inclusion Control subjects : MRI at inclusion
Type: Device
Group Labels: 4

ALS Patients Control patients suffering from myopathy Control patients suffering from neuropathy Control subjects


Primary Outcomes

Description: miRNA expression pattern in ALS patients compared to control patients.

Measure: miRNA expression

Time: At inclusion (day 0)

Secondary Outcomes

Description: Evolution of miRNA expression level in blood and CSF of ALS patients

Measure: miRNA evolution

Time: 12 months after inclusion

Measure: miRNA expression pattern in different ALS patients compared to control patients predictive of the clinical phenotype and of the progression of the disease.

Time: Day 0 (inclusion)

Description: Difference in diffusivity parameters of MRI between ALS subjects and control groups

Measure: Difference in diffusivity parameters of MRI

Time: At inclusion (Day 0) and 8 month after inclusion

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 G93A

A more recent work on transgenic murine model SOD1 G93A has demonstrated the role of the specific miRNA206 in regulating the re-innervation processes at the neuro-muscular junction. --- G93A ---



HPO Nodes


HPO: