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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Amyloidosis

• Study Type: Observational
• Enrollment (Anticipated): 20

Contacts and Locations

• Study Contact: Name: Marco Luigetti, MD; Phone Number: 0630154303; Email: marco.luigetti@policlinicogemelli.it
• Study Contact Backup: Name: Flavia Torlizzi; Phone Number: 0630156433; Email: flavia.torlizzi@policlinicogemelli.it

Study Locations

• Italy
  • Roma, Italy, 00168
    • Recruiting
    • Flavia Torlizzi
    • Contact: Flavia Torlizzi; Phone Number: +390630156433; Email: flavia.torlizzi@policlinicogemelli.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Data from pre-symptomatic carriers who have signed the written informed consent, in regular follow-up at the Centres, will be included in the study. Carriers recruited should be no less than 10 years of age compared to the age of onset of the affected relative with the youngest age of onset or should have a history of bilateral carpal tunnel syndrome undergoing surgery.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluation of a cohort of pre-symptomatic subjects carrying a TTR mutation	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.).	3 years

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2022
• Primary Completion (Anticipated): December 1, 2023
• Study Completion (Anticipated): November 30, 2024

Study Registration Dates

• First Submitted: February 22, 2023
• First Submitted That Met QC Criteria: February 22, 2023
• First Posted (Actual): March 3, 2023

Study Record Updates

• Last Update Posted (Actual): March 31, 2023
• Last Update Submitted That Met QC Criteria: March 29, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Proteostasis Deficiencies; Amyloidosis
• Other Study ID Numbers: 4108

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No