- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03190577
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology (PRE-TRANS)
July 13, 2022 updated by: Nantes University Hospital
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.
Study Overview
Status
Completed
Intervention / Treatment
Study Type
Interventional
Enrollment (Actual)
400
Phase
- Not Applicable
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
-
Angers, France, 49000
- CHU Angers
-
Brest, France, 29609
- CHRU Brest
-
La Roche-sur-Yon, France, 85000
- CHD La Roche sur Yon
-
La Rochelle, France, 17019
- CH La Rochelle
-
Le Mans, France, 72033
- CH Le Mans
-
Nantes, France
- CHU Nantes
-
Poitiers, France, 86021
- CHU Poitiers
-
Quimper, France, 29107
- CH Quimper
-
Saint-Brieuc, France, 22000
- CH Saint Brieuc
-
Saint-Grégoire, France, 35760
- CHP Saint-Grégoire - Cabinet de Neurologie ENMG
-
Saint-Nazaire, France, 44606
- CH Saint Nazaire
-
Tours, France, 37044
- CHRU Tours
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
18 years to 90 years (ADULT, OLDER_ADULT)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Description
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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: DIAGNOSTIC
- Allocation: NA
- Interventional Model: SINGLE_GROUP
- Masking: NONE
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
EXPERIMENTAL: patients with neuropathy of unknown aetiology
from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation
|
two 5 ML EDTA tubes of blood will be collected once by patient
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
to evaluate the prevalence of TTR amyloidosis
Time Frame: inclusion
|
number of patients with TTR mutation
|
inclusion
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy
Time Frame: inclusion
|
comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms
|
inclusion
|
Description of the TTR-FAP cohort
Time Frame: inclusion
|
medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms
|
inclusion
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (ACTUAL)
September 21, 2017
Primary Completion (ACTUAL)
May 23, 2022
Study Completion (ACTUAL)
May 23, 2022
Study Registration Dates
First Submitted
June 14, 2017
First Submitted That Met QC Criteria
June 14, 2017
First Posted (ACTUAL)
June 19, 2017
Study Record Updates
Last Update Posted (ACTUAL)
July 14, 2022
Last Update Submitted That Met QC Criteria
July 13, 2022
Last Verified
July 1, 2022
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolic Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Neuromuscular Diseases
- Neurodegenerative Diseases
- Proteostasis Deficiencies
- Metabolism, Inborn Errors
- Heredodegenerative Disorders, Nervous System
- Amyloidosis, Familial
- Peripheral Nervous System Diseases
- Amyloidosis
- Amyloid Neuropathies
- Amyloid Neuropathies, Familial
Other Study ID Numbers
- RC16_0427
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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