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Identification of Clinically Significant Markers of Hereditary Transthyretin Amyloidosis (TTR) in Pre-symptomatic Mutation Carriers: a Prospective Longitudinal Multicentre Study.

Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Other)
Overall Status
Recruiting
CT.gov ID
NCT05754099
Collaborator
(none)
20
Enrollment
1
Location
33
Anticipated Duration (Months)
0.6
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through instrumental methods and clinical scales in order to identify the first signs of clinically significant organ involvement by the disease. Healthy asymptomatic carriers will be subjected to regular monitoring through clinical evaluations and instrumental investigations defined by the consensus group (Conceicao et al.) in order to validate the criteria defined by this group to define the onset of the disease. A subgroup of carriers with scales and instrumental tests negative for damage to the peripheral nervous system or cardiac, but with subjective symptoms compatible with the disease, will be subjected to further instrumental tests not indicated by consent.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    20 participants
    Observational Model:
    Other
    Time Perspective:
    Prospective
    Official Title:
    Identification of Clinically Significant Markers of Hereditary Transthyretin Amyloidosis (TTR) in Pre-symptomatic Mutation Carriers: a Prospective Longitudinal Multicentre Study.
    Actual Study Start Date :
    Mar 1, 2022
    Anticipated Primary Completion Date :
    Dec 1, 2023
    Anticipated Study Completion Date :
    Nov 30, 2024

    Outcome Measures

    Primary Outcome Measures

    1. Evaluation of a cohort of pre-symptomatic subjects carrying a TTR mutation [3 years]

      To evaluate in a cohort of pre-symptomatic subjects carrying a TTR mutation the disease onset according to the European consensus criteria (Conceicao et al.).

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All

    Inclusion criteria

    1. Pre-symptomatic carriers of TTR mutation in regular follow-up at the Centres.

    2. Signature of the written informed consent.

    3. Age not less than 10 years compared to the age of onset of the relative with the youngest age of onset and/or a history of bilateral carpal tunnel syndrome undergoing surgery.

    Exclusion criteria

    • Other causes of neuropathies (diabetes; MGUS; alcoholism; vitamin deficiency).

    • Other causes of hypertrophic heart disease.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Flavia Torlizzi Roma Italy 00168

    Sponsors and Collaborators

    • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Fondazione Policlinico Universitario Agostino Gemelli IRCCS
    ClinicalTrials.gov Identifier:
    NCT05754099
    Other Study ID Numbers:
    • 4108
    First Posted:
    Mar 3, 2023
    Last Update Posted:
    Mar 3, 2023
    Last Verified:
    Feb 1, 2023
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Amyloidosis

    Study Results

    No Results Posted as of Mar 3, 2023