Expanding the Biomarkers in Familial Amyloid Neuropathy: MRI and Motor Unit Estimation by Electrophysiological Study
Launched by ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE · Jul 4, 2018
Trial Information
Current as of June 23, 2025
Completed
Keywords
ClinConnect Summary
Familial amyloid neuropathies (FAP) are hereditary disease due to a mutation of the tranthyretin gene (TTR). These neuropathies are severe and life frightening. Treatment is based on tafamidis and liver transplantation. Clinical trials of RNAI therapy are on-going. Treatment must be performed early to avoid clinical consequences.
Asymptomatic carrier of TTR mutation are now detected in large TTR-FAP family. Time of the beginning of the disease is quite variable among the patients and very difficult to predict. Penetrance is low and incomplete. It is estimated to be respectively 1.7% and 69...
Gender
ALL
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
About Assistance Publique Hopitaux De Marseille
Assistance Publique - Hôpitaux de Marseille (AP-HM) is a leading public healthcare institution in France, dedicated to providing high-quality medical care and advancing research in various clinical fields. As a prominent sponsor of clinical trials, AP-HM is committed to fostering innovation and improving patient outcomes through rigorous scientific investigation. With a multidisciplinary approach, the institution collaborates with a network of healthcare professionals, researchers, and academic partners to facilitate cutting-edge studies that address critical health challenges. AP-HM's dedication to ethical standards and patient safety underscores its role as a trusted leader in clinical research and healthcare delivery.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Marseille, Paca, France
Patients applied
Trial Officials
EMILIE GARRIDO PRADALIE
Study Director
APHM
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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