Advances in the treatment of hereditary transthyretin amyloidosis: a review
Open accessAbstract
Introduction: Amyloid transthyretin amyloidosis (ATTR) is a progressive and often fatal disease caused by the buildup of mutated (hereditary ATTR [hATTR]; also known as ATTR variant [ATTRv]) or normal transthyretin (wild‐type ATTR) throughout the body. Two new therapies—inotersen, an antisense oligonucleotide therapy, and patisiran, an RNA interference therapy—received marketing authorization and represent a significant advance in the treatment of amyloidosis. Herein, we describe the clinical presentation of ATTR, commonly used procedures in its diagnosis, and current treatment landscape for ATTR, with a focus on hATTR. Methods: A PubMed search from 2008 to September 2018 was conducted to review the literature on ATTR. Results: Until recently, there have been few treatment options for polyneuropathy of hATTR. Inotersen and patisiran substantially reduce the amyloidogenic precursor protein transthyretin and have demonstrated efficacy in patients with early‐ and late‐stage disease and in slowing or improving neuropathy progression. In contrast, established therapies, such as liver transplantation, typically reserved for patients with early‐stage disease, and tafamidis, indicated for the treatment of early‐stage disease in Europe, or diflunisal, a nonsteroidal anti‐inflammatory drug that is used off‐label, are associated with side effects and/or unclear efficacy in certain patient populations. Thus, inotersen and patisiran are positioned to be the preferred therapeutic modalities. Conclusions: Important differences between inotersen and patisiran, including formulation, dosing, requirements for premedications, and safety monitoring, require an understanding and knowledge of each treatment for informed decision making.
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Newer disease-modifying therapies, including antisense oligonucleotides and RNA interference approaches, are increasingly used for hereditary transthyretin amyloidosis.
“Newer disease-modifying therapies, including antisense oligonucleotides and RNA interference approaches, are increasingly used for hereditary transthyretin amyloidosis (Gertz et al., 2019).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Gertz et al., 2019
The Abstract Introduction identifies inotersen as an antisense oligonucleotide and patisiran as an RNA interference therapy. The Therapeutic landscape for ATTR section says both recently received marketing authorization for hereditary ATTR neuropathy and have demonstrated efficacy. The review does not establish that their clinical use was increasing. (LLM, conf=0.84)
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- Authors
- Gertz, M. A., Mauermann, M. L., Grogan, M., & Coelho, T.
- Affiliations
- Mayo Clinic (US)
- Hospital de Santo António (PT)
- Corresponding author
- Gertz, Morie A.
- Venue
- Brain and Behavior
- Publisher
- Wiley
- Published
- 2019-08
- Volume
- 9
- Issue
- 9
- Pages
- e01371-e01371
- ISSN
- 2157-9032 (ISSN-L)
- 2162-3279
- PMC
- PMC6749475
- OpenAlex
- W2966119045
- Cited by
- 102
- References
- 59
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 12 · 2023: 15 · 2022: 18 · 2021: 25 · 2020: 17 · 2019: 3
- FWCI
- 1.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Brain and Behavior (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Keywords
- hereditary transthyretin amyloidosis, transthyretin amyloidosis, inotersen, patisiran, antisense therapy, RNA interference therapy, wild-type transthyretin, polyneuropathy, tafamidis, diflunisal, liver transplantation, amyloidosis diagnosis
- MeSH terms
- Female, Humans, Oligonucleotides, Treatment Outcome, Amyloid Neuropathies, Familial, RNA, Small Interfering
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