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

NCT05754099 | Unknown

• 1 other identifier: 4108
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Amyloidosis

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Pre-symptomatic carriers of TTR mutation in regular follow-up at the Centres.
• Signature of the written informed consent.
• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Flavia Torlizzi

Roma, 00168, Italy

RECRUITING

MeSH Terms

Conditions

Amyloidosis

Condition Hierarchy (Ancestors)

Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Marco Luigetti, MD

CONTACT

0630154303; marco.luigetti@policlinicogemelli.it

Flavia Torlizzi

CONTACT

0630156433; flavia.torlizzi@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 22, 2023
• First Posted: March 3, 2023
• Study Start: March 1, 2022
• Primary Completion: December 1, 2023
• Study Completion: November 30, 2024
• Last Updated: March 31, 2023

Record last verified: 2023-02

Locations

IT (1)