Study of miRNA Expression Pattern as Diagnostic and Prognostic Biomarker in Amyotrophic Lateral Sclerosis

Summary

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.

Conditions

• Amyotrophic Lateral Sclerosis
• ALS

Interventions

OTHER

Clinical evaluation

Clinical evaluation using MRC scale, Norris bulbar scale, ALSFRS score and respiratory evaluation ( Vital Capacity, PiMax and SNIP) at M0, M4, M8, M12

PROCEDURE

Muscular biopsy

Muscular biopsy at M0

PROCEDURE

Lumbar puncture

Lumbar puncture at M0 and M12

PROCEDURE

Blood sampling

Blood sampling at M0, M4, M4, M8 and M12

OTHER

Neurological assessments

Neurological assessments (MRC score and cognitive scales: MMS and BREF)

PROCEDURE

Neuro-muscular biopsy and lumbar puncture

Neuro-muscular biopsy and lumbar puncture for patients explored for peripheral neuropathy

PROCEDURE

Muscular biopsy

Muscular biopsy for patient explored for myopathy

PROCEDURE

Blood sample

Blood sample for qRT PCR, detection and quantification for miRNA

DEVICE

Cervical spinal cord and brain MRI

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

Sponsors & Collaborators

• University Hospital, Bordeaux

  lead OTHER

Principal Investigators

• Anne-Cécile WIELANEK-BACHELET, MD · University Hospital, Bordeaux

• Rodolphe THIEBAUT, MD, PhD · University Hospital, Bordeaux

Eligibility

Min Age

45 Years

Max Age

70 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2014-06-17

Primary Completion

2015-10-31

Completion

2015-10-22

Countries

• France

Study Locations