4.6 Review

Current and Emerging Therapies for Hereditary Transthyretin Amyloidosis: Strides Towards a Brighter Future

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The use of diflunisal for transthyretin cardiac amyloidosis: a review

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Summary: This study summarises the use of diflunisal therapy for patients with Transthyretin cardiac amyloidosis (ATTR-CM). Diflunisal was associated with reduced mortality and need for heart transplant in ATTR-CM patients, but also led to some gastrointestinal side effects and transient renal dysfunction. Compared to no treatment, diflunisal was found to improve TTR concentration and certain cardiac markers.

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Summary: Tafamidis, at both 80 and 20 mg doses, effectively reduced mortality and cardiovascular-related hospitalizations in patients with ATTR-CM. The longer-term survival data and the lack of dose-related safety concerns support tafamidis 80 mg as the optimal dose.

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Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis

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Ligand conjugated antisense oligonucleotide for the treatment of transthyretin amyloidosis: preclinical and phase 1 data

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Summary: AKCEA-TTR-L-Rx, a ligand-conjugated antisense drug, showed significantly increased potency compared to unconjugated inotersen in human hepatocyte cell culture and transgenic hTTR mice expressing a mutated human genomic TTR sequence. In a phase 1 study with healthy volunteers, AKCEA-TTR-L-Rx demonstrated a reduction in TTR levels and a favorable safety profile, supporting its further development for the treatment of ATTR polyneuropathy and cardiomyopathy.

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Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis

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Summary: The study compared the neuropathic progression rate between hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and other peripheral neuropathies, finding that peripheral nervous function deteriorates more rapidly in patients with ATTRv-PN compared to other neuropathies.

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New effective treatment options reinforce disease awareness: the case of transthyretin cardiac amyloidosis

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Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups

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Xin Jiang et al.

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Claudio Rapezzi et al.

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Splenic regression of amyloid on multi-modality imaging in response to treatment with patisiran and diflunisal in hereditary transthyretin amyloidosis

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Summary: Cardiac amyloidosis is a serious infiltrative disease caused by the deposition of amyloid fibrils in the heart, which can be due to genetic variants or acquired conditions. With advances in imaging techniques, non-invasive diagnosis is now possible, showing that cardiac amyloidosis is more common than previously thought. The Working Group on Myocardial and Pericardial Disease has proposed definitions and diagnostic algorithms for cardiac amyloidosis.

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