Differential Study of Muscle Transcriptome

N/ACompletedNCT01984957

Assistance Publique - Hôpitaux de Paris42 enrolled

Overview

To isolate biomarkers of ALS in muscle

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)

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

ALS SMA SBMA

Interventions

Muscle biopsyPROCEDURE

open muscular biopsy of the deltoid under local anaesthesia

Eligibility

Sex: ALLMin age: 18 YearsMax age: 75 Years

Medical Language ↔ Plain English

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

Locations (1)

Centre d'évaluation Thérapeutique, Dr LACOMBLEZ

Paris, France

Outcomes

Primary Outcomes

Gene expression levels

Gene expression levels in muscle as determined By microarrays (transcriptome analysis)

Time frame: day 1

Secondary Outcomes

muscle denervation

Severity of muscle denervation as determined by histological analysis of muscle

Time frame: day 1

Functional evaluation

ALSFRS-R, Manual Muscle Testing and Slow Vital Capacity

Time frame: day 1

Data from ClinicalTrials.gov

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