Journal of Genetic Syndromes & Gene Therapy
Open Access

Systemic amyloidosis: The paradigm of a rare disease on brink of change

Annual Congress on Rare Diseases & Orphan Drugs

October 26-27, 2016 Chicago, USA

Ashutosh Wechalekar

University College London, UK

Posters & Accepted Abstracts: J Genet Syndr Gene Ther

Abstract :

Systemic amyloidoses are a group of rare diseases caused by deposition of protein fibrils. This talk will focus on the change in this disease from an abandoned orphan disease with no treatment to major advances in the approaches to diagnosis, changing epidemiology and recent advances in treatment including much interest from the pharmaceutical industry in new drug development. Light chain (AL) amyloidosis remains the most frequently identified type but cardiac transthyretin amyloidosis is being increasingly recognized. Senile cardiac amyloidosis appears to be an epidemic awaiting diagnosis. Mass spectrometry using laser capture microdissection of a tiny amount of amyloid deposits from histological sections has enabled improved amyloid fibril typing. Understanding of proteo-toxicity of amyloidogenic precursors has paved the way for new therapeutic approaches. Developments in cardiac magnetic resonance imaging such as Eq-CMR and T-1 mapping have lead to accurate quantitation of the myocardial interstitial deposits for diagnosis and response assessment. 99mTc-DPD/PyP scintigraphy is transforming evaluation of cardiac amyloidosis. The availability of novel chemotherapy agents and better selection of patients for autologous stem cell transplantation have enabled delivery of therapy in AL with less toxicity and improved outcomes. An array of novel agents, including RNA inhibitors, stabilizers of amyloid precursor proteins, inhibitors of fibril formation and immunotherapeutic targeting of amyloid deposits are all now in clinical development offering great hope for specific and effective new therapies.

Biography :

Email: a.wechalekar@ucl.ac.uk