Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology (PRE-TRANS)
Primary Purpose
Familial Amyloid Neuropathy, Transthyretin Amyloidosis
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
blood sample
Sponsored by
About this trial
This is an interventional diagnostic trial for Familial Amyloid Neuropathy focused on measuring Transthyretin mutation
Eligibility Criteria
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
Sites / Locations
- Chu Angers
- Chru Brest
- Chd La Roche Sur Yon
- Ch La Rochelle
- Ch Le Mans
- Chu Nantes
- Chu Poitiers
- Ch Quimper
- Ch Saint Brieuc
- CHP Saint-Grégoire - Cabinet de Neurologie ENMG
- Ch Saint Nazaire
- Chru Tours
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
patients with neuropathy of unknown aetiology
Arm Description
from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation
Outcomes
Primary Outcome Measures
to evaluate the prevalence of TTR amyloidosis
number of patients with TTR mutation
Secondary Outcome Measures
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
Description of the TTR-FAP cohort
medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms
Full Information
NCT ID
NCT03190577
First Posted
June 14, 2017
Last Updated
July 13, 2022
Sponsor
Nantes University Hospital
Collaborators
Pfizer
1. Study Identification
Unique Protocol Identification Number
NCT03190577
Brief Title
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Acronym
PRE-TRANS
Official Title
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Study Type
Interventional
2. Study Status
Record Verification Date
July 2022
Overall Recruitment Status
Completed
Study Start Date
September 21, 2017 (Actual)
Primary Completion Date
May 23, 2022 (Actual)
Study Completion Date
May 23, 2022 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Nantes University Hospital
Collaborators
Pfizer
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
Brief 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Familial Amyloid Neuropathy, Transthyretin Amyloidosis
Keywords
Transthyretin mutation
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
400 (Actual)
8. Arms, Groups, and Interventions
Arm Title
patients with neuropathy of unknown aetiology
Arm Type
Experimental
Arm Description
from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation
Intervention Type
Genetic
Intervention Name(s)
blood sample
Intervention Description
two 5 ML EDTA tubes of blood will be collected once by patient
Primary Outcome Measure Information:
Title
to evaluate the prevalence of TTR amyloidosis
Description
number of patients with TTR mutation
Time Frame
inclusion
Secondary Outcome Measure Information:
Title
To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy
Description
comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms
Time Frame
inclusion
Title
Description of the TTR-FAP cohort
Description
medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms
Time Frame
inclusion
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
90 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Facility Information:
Facility Name
Chu Angers
City
Angers
ZIP/Postal Code
49000
Country
France
Facility Name
Chru Brest
City
Brest
ZIP/Postal Code
29609
Country
France
Facility Name
Chd La Roche Sur Yon
City
La Roche-sur-Yon
ZIP/Postal Code
85000
Country
France
Facility Name
Ch La Rochelle
City
La Rochelle
ZIP/Postal Code
17019
Country
France
Facility Name
Ch Le Mans
City
Le Mans
ZIP/Postal Code
72033
Country
France
Facility Name
Chu Nantes
City
Nantes
Country
France
Facility Name
Chu Poitiers
City
Poitiers
ZIP/Postal Code
86021
Country
France
Facility Name
Ch Quimper
City
Quimper
ZIP/Postal Code
29107
Country
France
Facility Name
Ch Saint Brieuc
City
Saint-Brieuc
ZIP/Postal Code
22000
Country
France
Facility Name
CHP Saint-Grégoire - Cabinet de Neurologie ENMG
City
Saint-Grégoire
ZIP/Postal Code
35760
Country
France
Facility Name
Ch Saint Nazaire
City
Saint-Nazaire
ZIP/Postal Code
44606
Country
France
Facility Name
Chru Tours
City
Tours
ZIP/Postal Code
37044
Country
France
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
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