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

Launched by UNIVERSITY HOSPITAL, BORDEAUX · Nov 21, 2013

Keywords

ClinConnect Summary

Amyotrophic Lateral Sclerosis is an adult-onset neuro degenerative disease leading to muscle wasting, palsy and death due to respiratory failure within 3 to 5 years. The only effective drug (Riluzole) increases the life expectancy for about three months, knowing that on average, the diagnostic is given after a delay of one year in France. The identification of new biomarkers for early diagnostic is therefore of fundamental importance. This could improve the treatment efficacy but also give important clues about the prognostic, the rate of evolution and overall help identify new targets for ...

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Eligibility criteria

• Inclusion Criteria:
• For ALS patients:
• • Age between 45 and 70 years old
• • Patients with definite criteria of ALS according to revised El Escorial criterion (1998).
• • ALS Patients with a clinical motor impairment of the limbs +/- impairment of the bulbar muscles.
• • Patients with a clinical motor impairment on the deltoid muscle (MRC score\<5)
• For control patients:
• • Age between 45 and 70 years old
• • Patients having an orthopedic surgery of the shoulder with a normal neurological examination
• • Patients having a peripheral neuropathy with a motor component needing a biological blood sample, a lumbar puncture for CSF examination and a neuro-muscular biopsy for complete diagnostic
• • Patients having a muscular myopathy needing a biological blood sample and a deltoid muscle biopsy for complete diagnostic.
• • Patients affiliated to a governmental health plan
• • Clear and loyal consent form written and signed by the patient and the investigator ( before any exam and at least the day of inclusion)
• Exclusion Criteria:
• • Patients not eligible for a muscle biopsy (anti-coagulation, anti aggregation or blood coagulation pathologies)
• • Patients not eligible for lumbar puncture (anti-coagulation, anti aggregation or blood coagulation pathologies, recent spine surgery, acquired or congenital spine malformation, clinical signs of intracranial hypertension, cutaneous infection at the punction site).
• • ALS patient with isolated bulbar symptoms
• • Patients with a clinical syndrome of ALS-plus associating extra-pyramidal symptoms, cerebellar or spino-cerebellar syndromes autonomic disorders or ocular palsy.
• • Patients with marked cognitive impairments (MMS\<24/30 or BREF\<14/18)
• • Pregnant or breastfeeding women
• • Patients with any neurological or non-neurological disorders interfering with the ALSFRS score
• • Patients who could not express their consent
• • Patients in emergency situation
• • Patients under guardianship or judicial protection
• • Pace maker, cochlear implant
• • Spinal cord compression or trauma
• • Spine surgery
• • Spinal deformity
• • Claustrophobia
• • Metallic foreign body
• • Pregnancy
• • Vital capacity \< 50 %