A new clinical trial that aims to identify clinically significant markers of hereditary transthyretin amyloidosis (hATTR) in presymptomatic mutation carriers is in the recruitment phase.
The prospective longitudinal multicenter study aims to enroll 20 presymptomatic carriers of transthyretin (TTR) mutation aged no less than 10 years compared to the age of onset of the affected relative with the youngest age of onset and/or with a history of bilateral carpal tunnel syndrome undergoing surgery.
The exclusion criteria include other causes of neuropathies such as diabetes, monoclonal gammopathy of undetermined significance, alcoholism, and vitamin deficiency as well as other causes of hypertrophic heart disease.
The primary objective of the study is to evaluate a cohort of presymptomatic subjects carrying a TTR mutation with disease onset according to the European consensus criteria for a total of 3 years.
Read more about hATTR testing
The study authors will periodically monitor the asymptomatic mutation carriers identified in the context of a family screening of the affected proband to “identify the first signs of clinically significant organ involvement.”
“Healthy asymptomatic carriers will be subjected to regular monitoring through clinical evaluations and instrumental investigations defined by the consensus group,” to confirm the criteria defined by this group as disease onset, according to the study description on ClinicalTrials.gov.
A subgroup of carriers who test negative for damage to the cardiovascular and peripheral nervous systems, but with subjective symptoms compatible with the disease, will be further investigated.
The expected study completion date is November 30, 2024, while the estimated primary completion date is December 1, 2023.
The study is sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
Identification of clinically significant markers of hereditary transthyretin amyloidosis (TTR) in pre-symptomatic mutation carriers: a prospective longitudinal multicentre study. ClinicalTrials.gov. March 3, 2023. Accessed March 7, 2023.