Comprehensive Study of Hereditary Transthyretin Amyloidosis with Genetic Testing and Clinical Evaluations

What this Trial Is About

Researchers are conducting a prospective observational study to better understand hereditary transthyretin amyloidosis ATTR, a progressive and potentially life-threatening condition caused by amyloid fibril deposits affecting multiple organs. The study aims to describe patient characteristics, explore factors influencing disease progression, and establish minimum criteria for disease onset. The trial is led by Hospital de Alta Complejidad en Red and enrolls adults over 18 years old with confirmed pathogenic TTR gene variants. Participants include those with confirmed hereditary TTR gene variants, whether they show symptoms or are asymptomatic carriers. The study excludes individuals with wild-type TTR amyloidosis. Evaluations include comprehensive medical histories, full physical exams, clinical assessments such as heart and neurological exams, ECGs, and 24-hour Holter monitoring when arrhythmias are suspected. Genetic testing is sponsored by pharmaceutical companies. During the study, participants will undergo thorough clinical evaluations including monitoring of heart rate, respiratory rate, oxygen saturation, and neurological function. Researchers will measure various outcomes over three years, such as phenotypic classification, heart function, walking capacity, biomarkers like Pro-BNP and Troponin T, neuropathy scores, quality of life, and body mass index. These assessments help characterize disease progression and patient status throughout the study period.

Comprehensive Program for Hereditary Transthyretin Amyloidosis