ABOUT AMYLOIDOSIS

Characterization

Amyloid diseases are a diverse group of disorders, characterized by the deposition of amyloid protein fibrils in vital organs and tissues. There are approximately 30 different types of amyloidosis, each resulting from the misfolding and aggregation of a specific protein, and they are all severely debilitating, progressive, and often fatal.

Proven Treatments in Systemic Amyloidosis

Modulating amyloid proteins is a validated target in systemic amyloidosis. Therapies recently approved in ATTR amyloidosis have proven that reducing or stabilizing the pre-cursor protein leads to slowing disease progression. In AL amyloidosis, off-label plasma cell targeting agents including chemotherapy and Autologous Stem Cell Transplant, which both reduce the precursor protein, have also been shown to improve clinical outcomes. Reducing or stabilizing the pre-cursor protein in AL and ATTR amyloidosis results in the reduction of formation of new amyloid, but does not directly address already deposited toxic amyloid.

Diagnosis

There is a substantial unmet need to improve the diagnosis of amyloidosis in patients. The majority of systemic amyloidosis patients see more than four specialists and take more than 18 months to get an accurate diagnosis, with 25% of patients taking more than five years to get a correct diagnosis. Unfortunately, due to this prolonged process, a significant number of patients die without a diagnosis. Of the patients that do receive a diagnosis, there are a number of diagnostic procedures required with clear challenges in getting an early and accurate diagnosis. A misdiagnosis can be deadly and delayed diagnosis leads to poorer patient outcomes.