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Trial record 1 of 1 for:    NCT03190577
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Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology (PRE-TRANS)

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ClinicalTrials.gov Identifier: NCT03190577
Recruitment Status : Recruiting
First Posted : June 19, 2017
Last Update Posted : April 9, 2020
Sponsor:
Collaborator:
Pfizer
Information provided by (Responsible Party):
Nantes University Hospital

Tracking Information
First Submitted Date  ICMJE June 14, 2017
First Posted Date  ICMJE June 19, 2017
Last Update Posted Date April 9, 2020
Actual Study Start Date  ICMJE September 21, 2017
Estimated Primary Completion Date June 30, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: November 17, 2017)
to evaluate the prevalence of TTR amyloidosis [ Time Frame: inclusion ]
number of patients with TTR mutation
Original Primary Outcome Measures  ICMJE
 (submitted: June 14, 2017)
prevalence of TTR amyloidosis [ Time Frame: inclusion ]
prevalence of TTR amyloidosis
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: November 17, 2017)
  • 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
  • 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
Original Secondary Outcome Measures  ICMJE
 (submitted: June 14, 2017)
  • To identify patients "at risk" of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy [ Time Frame: inclusion ]
    clinical questionnaire, phenotypic presenting features
  • To define the diagnostic strategies for TTR-FAP [ Time Frame: inclusion ]
    phenotypic presenting features in order to determine whether the test used in this study should be deployed routinely in the diagnostic investigation of patients with unknown etiologic neuropathy.
  • Description of the TTR-FAP cohort [ Time Frame: inclusion ]
    clinical questionnaire, phenotypic presenting features
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Official Title  ICMJE Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
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.
Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE
  • Familial Amyloid Neuropathy
  • Transthyretin Amyloidosis
Intervention  ICMJE Genetic: blood sample
two 5 ML EDTA tubes of blood will be collected once by patient
Study Arms  ICMJE Experimental: patients with neuropathy of unknown aetiology
from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation
Intervention: Genetic: blood sample
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: June 14, 2017)
400
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE June 30, 2021
Estimated Primary Completion Date June 30, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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

Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Years to 90 Years   (Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE
Contact: YANN PEREON, MD-PHD NA (NO FDA) yann.pereon@chu-nantes.fr
Contact: ARMELLE MAGOT, MD NA (NO FDA) armelle.magot@chu-nantes.fr
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03190577
Other Study ID Numbers  ICMJE RC16_0427
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: No
Responsible Party Nantes University Hospital
Study Sponsor  ICMJE Nantes University Hospital
Collaborators  ICMJE Pfizer
Investigators  ICMJE Not Provided
PRS Account Nantes University Hospital
Verification Date April 2020

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP