NCT03190577: PRE-TRANS

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

Completed NA Last updated 14 July 2022

What this trial tests

NA trial testing blood sample in Familial Amyloid Neuropathy in 400 participants. Completed in 23 May 2022.

Timeline

21 September 2017

Primary endpoint
23 May 2022

23 May 2022

Quick facts

Lead sponsor	Nantes University Hospital
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	diagnostic
Enrollment	400
Start date	21 September 2017
Primary completion	23 May 2022
Estimated completion	23 May 2022
Sites	12 locations across France

Drugs / interventions tested

• blood sample — full drug profile →

Conditions studied

• Familial Amyloid Neuropathy — all drugs for Familial Amyloid Neuropathy →
• Transthyretin Amyloidosis — all drugs for Transthyretin Amyloidosis →

Sponsor

Nantes University Hospital

Who can join

Adults 18 to 90, any sex, with Familial Amyloid Neuropathy or Transthyretin Amyloidosis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations.
   Magot A, Lepetit M, Genestet S, Noury JB, et al · · 2025 · PMID 40586114 · DOI 10.1111/jns.70043