ALS, SBMA, SMA
Conditions
Keywords
ALS, Motor neuron diseases, Transcriptome
Brief summary
To isolate biomarkers of ALS in muscle
Detailed description
At present, there is no validated biological diagnostic marker for amyotrophic lateral sclerosis (ALS). The main objective of the study is to isolate a set of genes that are specifically dysregulated in muscle from ALS patients. Gene profiling in muscle will be compared between ALS patients and patients with other motor neuron diseases (SMA and SBMA)
Interventions
open muscular biopsy of the deltoid under local anaesthesia
Sponsors
Study design
Eligibility
Inclusion criteria
: \- Patient with ALS, SMA, or SBMA
Exclusion criteria
: * Indication against biopsy (allergy to anesthetics local haemostasis disorders) * Treatments that can affect muscle metabolism
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Gene expression levels | day 1 | Gene expression levels in muscle as determined By microarrays (transcriptome analysis) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| muscle denervation | day 1 | Severity of muscle denervation as determined by histological analysis of muscle |
| Functional evaluation | day 1 | ALSFRS-R, Manual Muscle Testing and Slow Vital Capacity |
Countries
France