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Background <p>Variant transthyretin amyloidosis (ATTRv) is an uncommon multisystem disease caused by point mutations in the transthyretin (<i>TTR</i>) gene, leading to systemic amyloid deposition. Patisiran is a lipid nanoparticle-based small interfering RNA (siRNA) drug that inhibits hepatic transthyretin synthesis. While clinical trials have established its efficacy, real-world data remain limited.</p> Methods <p>This review was conducted following the Joanna Briggs Institute methodology and the PRISMA-ScR guidelines. A systematic search was performed on PubMed, Scopus, Web of Science, and Google Scholar for published case reports on ATTRv amyloidosis treated with Patisiran.</p> Results <p>Of the 43 patients included, the mean age at symptom onset was 53 ± 17.4&#xa0;years, with a diagnostic delay averaging 3&#xa0;years. Val30Met was the most prevalent <i>TTR</i> mutation (25.6%), and 58.1% of patients had a positive family history. Neurological symptoms were the most common initial presentation (41.9%). The mean treatment duration with Patisiran was 18&#xa0;months. Neurological improvement was observed in 58.1% of cases, while cardiological and gastrointestinal changes were less frequent (25.6% each). Post-treatment outcomes were observed in NIS (− 19.2%), NIS-W (− 23.8%), and FAP scores (− 29.6%). Norfolk QOL-DN scores improved (− 21.6%), 6MWT distance increased (+ 84.9%), and body weight rose (+ 8.8%). NT-proBNP decreased (− 38.3%), while the ejection fraction showed a slight reduction, and absolute GLS improved (+ 7.2%). Adverse effects were reported in 9.3% of patients and were mild in severity.</p> Conclusions <p>To our knowledge, this is the first review exclusively analyzing case reports of Patisiran in ATTRv amyloidosis, highlighting promising neurological benefit and real-world safety.</p>

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Nanoparticle-Based RNA Interference in Variant Transthyretin Amyloidosis (ATTRv)

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月3日

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  • Conrad Baumeister,
  • Nikola Tóthová

摘要

Background

Variant transthyretin amyloidosis (ATTRv) is an uncommon multisystem disease caused by point mutations in the transthyretin (TTR) gene, leading to systemic amyloid deposition. Patisiran is a lipid nanoparticle-based small interfering RNA (siRNA) drug that inhibits hepatic transthyretin synthesis. While clinical trials have established its efficacy, real-world data remain limited.

Methods

This review was conducted following the Joanna Briggs Institute methodology and the PRISMA-ScR guidelines. A systematic search was performed on PubMed, Scopus, Web of Science, and Google Scholar for published case reports on ATTRv amyloidosis treated with Patisiran.

Results

Of the 43 patients included, the mean age at symptom onset was 53 ± 17.4 years, with a diagnostic delay averaging 3 years. Val30Met was the most prevalent TTR mutation (25.6%), and 58.1% of patients had a positive family history. Neurological symptoms were the most common initial presentation (41.9%). The mean treatment duration with Patisiran was 18 months. Neurological improvement was observed in 58.1% of cases, while cardiological and gastrointestinal changes were less frequent (25.6% each). Post-treatment outcomes were observed in NIS (− 19.2%), NIS-W (− 23.8%), and FAP scores (− 29.6%). Norfolk QOL-DN scores improved (− 21.6%), 6MWT distance increased (+ 84.9%), and body weight rose (+ 8.8%). NT-proBNP decreased (− 38.3%), while the ejection fraction showed a slight reduction, and absolute GLS improved (+ 7.2%). Adverse effects were reported in 9.3% of patients and were mild in severity.

Conclusions

To our knowledge, this is the first review exclusively analyzing case reports of Patisiran in ATTRv amyloidosis, highlighting promising neurological benefit and real-world safety.