Transthyretin-Related Hereditary Amyloidosis

Hereditary disorder characterized by AMYLOID DEPOSITS in the EXTRACELLULAR MATRIX of different tissues. Patients present POLYNEUROPATHY; CARPAL TUNNEL SYNDROME, autonomic insufficiency, CARDIOMYOPATHY, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified. OMIM: 105210

Also Known As:

Networked: 577 relevant articles (28 outcomes, 55 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Amyloidosis
2.	Cardiomyopathies (Cardiomyopathy)
3.	Polyneuropathies (Polyneuropathy)
4.	Heart Failure
5.	Alzheimer Disease (Alzheimer's Disease)

Experts

1.	Ando, Yukio: 27 articles (12/2021 - 11/2011)
2.	Ueda, Mitsuharu: 24 articles (03/2022 - 11/2011)
3.	Maurer, Mathew S: 22 articles (12/2022 - 08/2012)
4.	Suhr, Ole B: 22 articles (01/2022 - 03/2002)
5.	Obici, Laura: 19 articles (01/2022 - 06/2012)
6.	Kristen, Arnt V: 18 articles (09/2022 - 12/2007)
7.	Coelho, Teresa: 18 articles (06/2022 - 08/2013)
8.	Merlini, Giampaolo: 18 articles (11/2021 - 06/2012)
9.	Benson, Merrill D: 16 articles (06/2021 - 09/2006)
10.	Rapezzi, Claudio: 15 articles (10/2022 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Transthyretin-Related Hereditary Amyloidosis:

1.	tafamidisIBA 01/01/2022 - "A study protocol for an observational cohort investigating cardiac transthyretin amyloidosis flow reserve before and after Tafamidis treatment: The AMYTRE study." 01/01/2017 - "In this post hoc analysis, data from an observational study (Transthyretin Amyloidosis Cardiac Study; n = 29) were compared with an open-label study of tafamidis in patients with TTR-CM (Fx1B-201; n = 35). " 05/01/2016 - "There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. " 10/11/2023 - "A Comprehensive Review on Chemistry and Biology of Tafamidis in Transthyretin Amyloidosis." 02/23/2023 - "Tafamidis for cardiac transthyretin amyloidosis: application in a real-world setting in Germany."
2.	Amyloid (Amyloid Fibrils)IBA 10/27/2022 - "In this structural study we analyzed ATTRwt amyloid fibrils from the heart of a patient with non-hereditary transthyretin amyloidosis. " 01/01/2019 - "Evolution of amyloid fibrils in hereditary transthyretin amyloidosis: an ultrastructural study." 11/15/2018 - "The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: An ultrastructural study." 11/27/2023 - "Drug Repositioning for Amyloid Transthyretin Amyloidosis by Interactome Network Corrected by Graph Neural Networks and Transcriptome Analysis." 11/23/2023 - "Fat aspirate, cardiac and whole-body imaging found no amyloid deposition, and genetic testing for transthyretin amyloidosis was negative. "
3.	InotersenIBA 01/01/2019 - "Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis." 07/05/2018 - "Inotersen improved the course of neurologic disease and quality of life in patients with hereditary transthyretin amyloidosis. " 01/01/2020 - "Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial." 12/01/2022 - "Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update." 01/01/2022 - "Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy."
4.	patisiranIBA 01/01/2018 - "In this trial, patisiran improved multiple clinical manifestations of hereditary transthyretin amyloidosis. " 01/01/2019 - "Association of Patisiran, an RNA Interference Therapeutic, With Regional Left Ventricular Myocardial Strain in Hereditary Transthyretin Amyloidosis: The APOLLO Study." 12/01/2022 - "Indeed, patisiran has been released in 2018 for hereditary transthyretin amyloidosis. " 01/01/2022 - "Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran." 12/01/2019 - "An evaluation of patisiran: a viable treatment option for transthyretin-related hereditary amyloidosis."
5.	Prealbumin (Transthyretin)IBA 01/01/2020 - "First-in-Human Study of AG10, a Novel, Oral, Specific, Selective, and Potent Transthyretin Stabilizer for the Treatment of Transthyretin Amyloidosis: A Phase 1 Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Healthy Adult Volunteers." 12/31/2023 - "Transthyretin amyloidosis is a severe pathology characterized by the progressive accumulation of transthyretin (TTR) in various organs and tissues. " 12/01/2023 - "Transthyretin is produced in the retina and approximately one quarter of patients with variant transthyretin amyloidosis (ATTRv) develop ocular involvement. " 11/09/2023 - "Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant adult-onset disorder caused by point mutations in the transthyretin (TTR) gene encoding TTR, also known as prealbumin. " 10/20/2023 - "Transthyretin amyloidosis (ATTR) is a group of diseases caused by the deposition of insoluble fibrils derived from misfolded transthyretin, which compromises the structure and function of various organs, including the heart. "
6.	Proteins (Proteins, Gene)FDA Link 09/07/2021 - "Clinicians should be aware of this rare form of familial transthyretin amyloidosis as well as its typical MRI enhancement and high CSF protein. " 11/17/2020 - "The structure of TTR, with four monomers rich in β-chains in a globular tetrameric protein, accounts for the predisposition of the protein to aggregate in fibrils, leading to a rare and severe disease, namely transthyretin amyloidosis (ATTR). " 01/01/2019 - "Hereditary  transthyretin amyloidosis (ATTR) is a fatal systemic disease that results from deposition of the misfolded protein transthyretin (TTR) in tissues. " 01/01/2016 - "Transthyretin amyloidosis (ATTR) belongs to a class of disorders caused by protein misfolding and aggregation. " 02/01/2011 - "Incidental serum monoclonal proteins did not interfere with detection of transthyretin amyloidosis in 2 patients. "
7.	Small Interfering RNA (siRNA)IBA 11/01/2016 - "Patisiran®, an LNP encapsulating siRNA for hepatic gene silencing, is currently in Phase III clinical trials for treatment of Transthyretin amyloidosis as are several other siRNA products employing this delivery technology. " 10/01/2020 - "In 2018, the first siRNA-containing drug was approved by the FDA and the EMA for the treatment of an inherited metabolic disease, the hereditary transthyretin amyloidosis. " 04/27/2022 - "Treatments based on antisense oligonucleotides (ASO) and small interfering RNA (siRNA) have been developed and are now commercially available to treat hereditary transthyretin amyloidosis (hTTR) and porphyria. " 02/11/2022 - "Similar to the mRNA technology, the development of LNP systems has been ongoing for decades before culminating in the success of the first clinically approved siRNA-LNP product, ONPATTRO®, a treatment for an otherwise fatal genetic disease called transthyretin amyloidosis. " 03/01/2020 - "Here, the role of APOE was investigated with regard to the efficacy of Patisiran, the first LNP-siRNA recently approved for clinical use in patients having transthyretin amyloidosis (ATTR amyloidosis). "
8.	Biomarkers (Surrogate Marker)IBA 09/19/2023 - "Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?" 12/01/2021 - "Untargeted metabolomics is a well-established technique and a powerful tool to find potential plasma biomarkers for early diagnosing hereditary transthyretin amyloidosis. " 12/01/2021 - "Metabolomics analysis for diagnosis and biomarker discovery of transthyretin amyloidosis." 11/11/2021 - "Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study." 01/01/2021 - "Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers."
9.	Antisense OligonucleotidesIBA 11/09/2023 - "Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments." 12/01/2022 - "Population pharmacokinetic/pharmacodynamic modelling of eplontersen, an antisense oligonucleotide in development for transthyretin amyloidosis." 08/01/2019 - "Antisense oligonucleotide (ASO) therapeutics for spinal muscular atrophy, Duchenne muscular dystrophy and transthyretin amyloidosis predict a robust future for ASOs in medicine. " 04/01/2023 - "Inotersen is an antisense oligonucleotide used to treat hereditary transthyretin amyloidosis (ATTRv). " 01/01/2021 - "Ligand conjugated antisense oligonucleotide for the treatment of transthyretin amyloidosis: preclinical and phase 1 data."
10.	Doxycycline (Periostat)FDA LinkGeneric 06/01/2012 - "Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study." 01/01/2017 - "Effect of doxycycline and ursodeoxycholic acid on transthyretin amyloidosis." 09/01/2013 - "Abstract Doxycycline inhibits amyloid formation in vitro and its therapeutic efficacy is under evaluation in clinical trials for different protein conformational diseases, including prion diseases, Alzheimer's disease and transthyretin amyloidosis. "

Therapies and Procedures

1.	Therapeutics 02/01/2023 - "Disease-modifying therapies in both light chain and transthyretin amyloidosis have improved patient functional status and survival. " 01/01/2023 - "This review provides an overview of the available therapies for treating neuropathic and/or cardiac manifestations of transthyretin amyloidosis (ATTR), as well as investigational therapeutic agents in ongoing clinical trials. " 01/01/2022 - "The initiation of several clinical trials using these approaches to treat metabolic liver disorders as well as the recently reported remarkable results obtained by patients with transthyretin amyloidosis highlight the advances in this field and show the potential of these therapies to treat these diseases safely and efficaciously. " 04/04/2017 - "For patients with transthyretin amyloidosis, there are numerous therapies that are currently in late-phase clinical trials. " 01/01/2023 - "Emerging Therapies for Transthyretin Amyloidosis."
2.	Liver Transplantation 01/01/2017 - "Liver transplantation is the first-line treatment for familial transthyretin amyloidosis. " 12/01/2023 - "Neuropathy progression in hereditary transthyretin amyloidosis (ATTRv) patients after liver transplantation." 01/01/2023 - "Treatment of acquired transthyretin amyloidosis in domino liver transplantation." 08/01/2021 - "Symptomatic Val122del mutated hereditary transthyretin amyloidosis: Need for early diagnosis and prioritization for heart and liver transplantation." 01/01/2021 - "Pearls & Oy-sters: Number, Weaker, and Dizzier Due to Transthyretin Amyloidosis After 2 Liver Transplants."
3.	Length of Stay 07/01/2022 - "The Transthyretin Amyloidosis Cardiomyopathy Clinical Trial (ATTR-ACT) demonstrated the efficacy of tafamidis on the frequency of cardiovascular (CV)-related hospitalizations in patients with ATTR-CM. As length of stay can affect the total hospitalization burden, our study aimed to better understand the impact of tafamidis on the number of CV-related hospital days avoided in the management of ATTR-CM patients. "
4.	Drug Therapy (Chemotherapy) 11/01/2020 - "Until recently considered as a rare, incurable disease, cardiac amyloidosis, is still mis/underdiagnosed, although treatments effective in improving patient survival are now available for both subtypes, including chemotherapy regimens for immunoglobulin light-chain amyloidosis and tetramer stabiliser for transthyretin amyloidosis. " 01/01/2023 - "Fifteen patients with confirmed SFN (idiopathic neuropathy [n = 10], chemotherapy-induced peripheral neuropathy [n = 2], impaired glucose tolerance [n = 1], hereditary transthyretin amyloidosis (hATTR) [n = 1], pulmonary sarcoidosis [n = 1]) and 15 matched control subjects underwent assessment of vascular skin responses assessed through laser Doppler flowmetry and evaluation of microvascular vessel and nerve density in skin biopsies. " 01/01/2014 - "In the treatment of amyloidosis associated with immunoglobulins systemic chemotherapy is used without transplant or stem cell transplantation and in the treatment of familial transthyretin amyloidosis liver transplantation is used. " 01/01/2014 - "Systemic chemotherapy with or without stem cell transplantation is used to treat immunoglobulin-related amyloidosis and liver transplantation is used for familial transthyretin amyloidosis in select patients. " 01/01/2012 - "Molecular mechanisms for other amyloidoses, such as transthyretin amyloidosis, AL-amyloidosis, as well as α-synuclein and prion protein are also pharmacological targets for current drug therapy, design and discovery. "
5.	Vitrectomy 01/01/2020 - "We conducted a retrospective observational study including 31 eyes of 20 patients in order to investigate the efficacy of 25-gauge vitrectomy for vitreous opacity with minimal conjunctival invasion and subsequent management of intraocular pressure (IOP) secondary to hereditary transthyretin amyloidosis. " 03/29/2021 - "Vitrectomy may improve visual acuity of hereditary transthyretin amyloidosis (ATTRv) patients presenting with vitreous opacities but is associated with severe complications. " 03/29/2021 - "Specific postoperative complications of vitrectomy in hereditary transthyretin amyloidosis." 01/02/2020 - "Vitreous opacities and additional findings of ocular involvement in patients with transthyretin amyloidosis indicate the need for pars plana vitrectomy. " 01/01/2020 - "Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis."