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

Amyloidosis Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05754099
• Other study ID #: 4108
• Status: Recruiting
• Start date: March 1, 2022
• Est. completion date: November 30, 2024

Study information

• Verified date: February 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Marco Luigetti, MD
• Phone: 0630154303
• Email: marco.luigetti[@]policlinicogemelli.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: November 30, 2024
• Est. primary completion date: December 1, 2023
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Amyloidosis

Locations

Country	Name	City	State
Italy	Flavia Torlizzi	Roma

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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