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

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Amyloidosis

Study type: Observational

Funder types: Other

Identifiers

NCT05754099

4108

Details and patient eligibility

About

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.

Enrollment: 20 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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.