NCT03190577

Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 400 (actual)
• Sponsor: Nantes University Hospital · Academic / Other
• Sex: All
• Age: 18 Years – 90 Years
• Healthy volunteers: Not accepted

Summary

Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins. These deposits produce a multi-organ disease. AP is usually fatal 10 to 15 years after onset of symptoms if untreated. The prevalence of the disease remains still poorly understood and usually the search for this pathology is done in a third line of investigation. So the average time to diagnosis is extremely long, from 12 to 24 month. Now that the investigators have etiological treatment ( famidis (Vyndaqel®) and Diflunisal (Dolobid)) of this disease, it is essential to be able to detect FAP patients as early as possible. With this study, investigator decided to test for TTR mutation all patients presented with neuropathy of unknown etiology at the first line of investigation. The goal of this study is to evaluate the prevalence of FAP-TTR among neuropathy and defined the best strategy to test this population for TTR mutations.

Conditions

• Familial Amyloid Neuropathy
• Transthyretin Amyloidosis

Interventions

Type	Name	Description
GENETIC	blood sample	two 5 ML EDTA tubes of blood will be collected once by patient

Timeline

• Start date: 2017-09-21
• Primary completion: 2022-05-23
• Completion: 2022-05-23
• First posted: 2017-06-19
• Last updated: 2022-07-14

Locations

12 sites across 1 country: France