SNPMiner Trials (Home Page)
Report for Clinical Trial NCT01992029
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
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.
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: