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

Transthyretin Amyloidosis Clinical Trial

— PRE-TRANS  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03190577
• Other study ID #: RC16_0427
• Status: Completed
• Phase: N/A
• Start date: September 21, 2017
• Est. completion date: May 23, 2022

Study information

• Verified date: July 2022
• Source: Nantes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 400
• Est. completion date: May 23, 2022
• Est. primary completion date: May 23, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 90 Years

Eligibility

Inclusion Criteria:

• Adult patient (male and female) aged not more than 90 years old

• Patients with neuropathy identified by EDX exam or small fibre neuropathy identified from a skin biopsy.

• Patients who have undergone the minimal assessment for neuropathy as defined by the HAS (French National Health Authority): biological analysis (fasting glucose, CBC, liver and renal functions, CRP, pituitary TSH)

• Patients belonging to the social security system

• Patient who gave written informed consent

NON-INCLUSION CRITERIA Patients under legal supervision or guardianship Patients with a confirmed documented diagnosis of the cause of neuropathy Patients with evidence of Charcot Marie Tooth neuropathy: very slowly progressive course, pes cavus.

Patients who have already been investigated for a TTR mutation Pregnant women Minors

Related Conditions & MeSH terms

• Amyloid Neuropathies
• Amyloid Neuropathies, Familial
• Amyloidosis
• Familial Amyloid Neuropathy
• Peripheral Nervous System Diseases
• Transthyretin Amyloidosis

Intervention

Genetic:
• blood sample
two 5 ML EDTA tubes of blood will be collected once by patient

Locations

Country	Name	City	State
France	Chu Angers	Angers
France	Chru Brest	Brest
France	Chd La Roche Sur Yon	La Roche-sur-Yon
France	Ch La Rochelle	La Rochelle
France	Ch Le Mans	Le Mans
France	Chu Nantes	Nantes
France	Chu Poitiers	Poitiers
France	Ch Quimper	Quimper
France	Ch Saint Brieuc	Saint-Brieuc
France	CHP Saint-Grégoire - Cabinet de Neurologie ENMG	Saint-Grégoire
France	Ch Saint Nazaire	Saint-Nazaire
France	Chru Tours	Tours

Sponsors (2)

Lead Sponsor	Collaborator
Nantes University Hospital	Pfizer

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	to evaluate the prevalence of TTR amyloidosis	number of patients with TTR mutation	inclusion
Secondary	To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy	comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms	inclusion
Secondary	Description of the TTR-FAP cohort	medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms	inclusion