Expanding the Biomarkers in Familial Amyloid Neuropathy: MRI and Motor Unit Estimation by Electrophysiological Study
Amyloid Neuropathies, Transthyretin Amyloidosis
About this trial
This is an interventional diagnostic trial for Amyloid Neuropathies
Eligibility Criteria
For a subject to be eligible, all of the inclusion criteria and none of the exclusion criteria must be met.
3.1.1. TTR mutation gene carriers 3.1.1.a. Inclusion criteria
Subject must meet the following criteria to be included:
- 18 years and older
- Men or women
- Carrying TTR mutation
- Having social insurance
- Given written informed consent after being informed of the purpose and potential risks
3.1.1.b. Exclusion criteria
Subjects with the following criteria will be excluded:
- Subject with a contraindication for MRI explorations
- Subject unable to understand the purpose and conditions of carrying out the study, unable to give consent
3.1.2. Healthy controls 3.1.2.a. Inclusion criteria
Subject must meet the following criteria to be included:
- 18 years and older
- Men or women
- Having social insurance
- Given written informed consent after being informed of the purpose and potential risks
3.1.2.b. Exclusion criteria
Subjects with the following criteria will be excluded:
- Subject with a contraindication for MRI explorations
- Subject unable to understand the purpose and conditions of carrying out the study, unable to give consent
Sites / Locations
- Assistance Publique Des Hopitaux de Marseille
Arms of the Study
Arm 1
Arm 2
Arm 3
Sham Comparator
Active Comparator
Experimental
healthy
Asymptomatic carriers
Symptomatic carriers
will be defined as persons without pathological mutation of the TTR gene Electrophysiological biomarkers and MRI biomarkers will be performed
will be defined as persons with a known pathological mutation of the TTR gene but with no clinical complain, normal clinical examination, and normal renal and cardiac investigations. Electrophysiological biomarkers and MRI biomarkers will be performed
will be defined as persons with a known pathological mutation of the TTR gene with clinical complain, abnormal clinical examination, and abnormal renal and cardiac investigations. Electrophysiological biomarkers and MRI biomarkers will be performed