Southeastern ATTR Amyloidosis Consortium: SEATTRAC Family Registry
Virginia Commonwealth University
Summary
The study design is a prospective registry including asymptomatic and symptomatic patients who carry a pathogenic TTR mutation. The study will enroll patients who meet the inclusion criteria and none of the exclusion criteria until 1000 patients are enrolled, at which point in time the study investigators will evaluate whether further patient accrual is meaningful.
Description
Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominant disorder caused by a pathogenic mutation of the transthyretin (TTR) gene. The mutated gene destabilizes the TTR tetramer causing it to dissociate, misfold and accumulate as insoluble extracellular amyloid fibrils. These fibrils then deposit in various organs and tissues leading to organ dysfunction and destruction. There are more than 130 known pathogenic mutations of the TTR gene leading to hATTR with predominantly neurologic or cardiac clinical manifestations. The V142I mutation (historically reported as V122I prior to th…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Over the age of 18 years * Carrier of a pathogenic hATTR mutation confirmed on whole blood gene testing or mass spectrometry * Willing to return for required follow-up visits Exclusion Criteria: * Patient having undergone heart transplantation or implantation of mechanical circulatory support * Patients unable to provide informed consent * Patients having undergone liver transplantation * Patients have evidence of light chain amyloidosis
Interventions
- OtherRegistry
The purpose of this registry is to collect and store health information from people who are carriers of the gene known to cause hereditary amyloidosis and those with a confirmed diagnosis of the disease.
Location
- Virginia Commonwealth UniversityRichmond, Virginia