MedTrace Logo

Presymptomatic Neuromuscular Junction Defects and Compensatory Mechanisms in ALS

NCT03573466 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2022-02-18

No results posted yet for this study

Summary

Denervation of neuromuscular junctions (NMJs) and initial compensatory reinnervation is the earliest pathological event in various motor neuron disease models, occurring far before motor symptom onset. In patients harboring genetic mutations responsible for Amyotrophic Lateral Sclerosis (ALS), identification of early, pre-symptomatic, NMJ pathological events and compensatory mechanisms could lead to the development of new treatments to prevent motor functional impairment.

The aims of our study are thus:

1. To investigate and characterize early, presymptomatic, defects of NMJ morphology in pre-manifest C9ORF72 or SOD1 mutation carriers;
2. To investigate and quantify reinnervation at the level of NMJs in these subjects;
3. To identify muscle molecular dysregulated pathways involved in the development of NMJ alterations and the development / maintenance of compensatory collateral reinnervation.

Conditions

Interventions

PROCEDURE

Muscle biopsy

A motor point biopsy of deltoid muscle will be carried out at the time of inclusion using a standardized procedure, as routinely performed. Muscle samples will be removed from the deltoid muscle by open biopsy under local anaesthesia. The region containing NMJs will be determined by the small twitch provoked by the tip of the scalpel on the surface of the muscle fascicles.

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Gaelle BRUNETEAU, BRUNETEAU · APHP

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
30 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-04-10
Primary Completion
2023-05-25
Completion
2023-05-25

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03573466 on ClinicalTrials.gov