Observational Study of Hereditary ATTR Amyloidosis Val50Met Variant in Adults Aged 20 to 70 in Non-Endemic Areas

What this Trial Is About

Researchers are studying hereditary transthyretin amyloidosis ATTRv with the Val50Met genetic variant in a population where this condition is not common. The goal is to describe different physical signs and symptoms, including early signs before symptoms appear, heart-related, nerve-related, and mixed manifestations. This research aims to help identify early disease signs in people who do not show symptoms initially, improving early detection and treatment approaches. Participants carry the Val50Met variant and will undergo a series of clinical exams and tests. These include a full physical exam, neurological assessments such as motor strength and sensory testing, heart monitoring with ECG and echocardiography, and various questionnaires assessing quality of life and nerve function. Additional tests include electromyograms, specific heart imaging scans, and laboratory tests analyzing blood and urine samples for various biomarkers. During the study, participants will be evaluated over a period of two years to gather detailed information about their health status. Researchers will review preclinical and clinical variables related to heart and nerve function and quality of life measures. The study includes regular clinical exams, diagnostic imaging, questionnaire assessments, and laboratory testing to monitor disease manifestations and potential early onset signs in carriers of the genetic variant.

Phenotypic Manifestations of Hereditary ATTR Amyloidosis