New Paradigms in the Management of Hereditary Transthyretin Amyloidosis Mixed Phenotype (ATTRv): ATTRv-CM and ATTRv-PN

Program Description

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This program will provide up-to-date, evidence-based information for diagnosing and managing ATTR-CM and ATTR-PN patients. The activity will focus on:

• ATTR-CM and ATTR-PN – Frequency and characteristics of ATTR-CM and ATTR-PN
• Diagnosis of ATTR-CM
• Nuclear scintigraphy (including Tc99m PYP, Tc-99m DPD, and Tc-99m HDMP)
• Cardiovascular magnetic resonance (CMR)
• Echocardiography
• Magnetic resonance imaging (MRI)
• Western blot assay
• Diagnosis of ATTR-PN
• Screening laboratory tests include blood glucose evaluations, serum free light chain (FLC) serum B12 with metabolites, and serum and urine immunofixation electrophoresis.
• TTR gene sequencing, looking for TTR gene amyloidogenic variants, and tools for detecting amyloid deposits.
• Histological documentation of amyloid in diagnosing ATTR.
• Congo red staining with apple green birefringence under polarized light represents the pathognomonic appearance of amyloid.
• Sural nerve biopsy for confirming ATTRv-PN, with a sensitivity of up to 86%.
• Target organ biopsy offers the highest diagnostic yield; less invasive methods like abdominal fat aspiration or salivary gland biopsy are viable alternatives.
• Treatment of ATTR-CM and ATTR-PN- Novel treatment options for ATTR-CM and ATTR-PN
• Tetramer stabilizers – Acoramidis, Tafamidis
• Acoramidis, FDA accepted the New Drug Application (NDA) on February 5, 2024, as an oral treatment for ATTR-CM.
• Tafamidis is FDA-approved for treating wild-type ATTR (ATTRwt) and hereditary ATTR (ATTRv) cardiomyopathy.
• Antisense oligonucleotides – Eplontersen, Inotersen
• Eplontersen FDA accepted Fast track designation on Feb 8, 2024, for ATTR-CM, and in December 2023, eplontersen was approved for the treatment of ATTR-PN
• Inotersen was FDA-approved for the treatment of ATTR-PN
• Small interfering RNAs – Patisiran, Vutrisiran
• Patisiran is approved for the treatment of ATTR-PN
• Vutrisiran is approved for both the ATTR-CM and ATTR-PN
• Nonsteroidal anti-inflammatory drug – Diflunisal
• Investigational therapies include a TTR stabilizer, AG10; 2 antifibril agents, PRX004 and doxycycline/tauroursodeoxycholic acid; and 2 gene silencers, vutrisiran and AKCEA-TTR-LRx; and clinical trials are ongoing.

Agenda

• Discuss the diagnosis and novel treatment options for ATTR-CM – Michelle Kittleson, MD, PhD

• Discuss the diagnosis and novel treatment options for ATTR-PN – Chafic Karam, MD

Intended Audience

Cardiologists, neurologists, geneticists, radiologists, primary care physicians, nurse practitioners, physician assistants, and nurses who diagnose and treat patients with hereditary transthyretin amyloidosis (ATTRv;v for variant), ATTR-CM and ATTR-PN.

Commercial Supporter

Supported by a restricted educational grant from Alnylam U.S., Inc.