Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-03-01

Study Completion Date

2024-11-30

Brief Summary

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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.

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Detailed Description

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Conditions

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Amyloidosis

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.