Márcia Waddington‐Cruz
A5019223420- Amyloidosis: Diagnosis, Treatment, Outcomes
- Parathyroid Disorders and Treatments
- Cellular transport and secretion
- Peptidase Inhibition and Analysis
- Eosinophilic Disorders and Syndromes
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Protein Kinase Regulation and GTPase Signaling
- Dermatological and Skeletal Disorders
- Sarcoidosis and Beryllium Toxicity Research
- Alzheimer's disease research and treatments
- Pancreatitis Pathology and Treatment
- Myasthenia Gravis and Thymoma
- Ion channel regulation and function
- Peripheral Neuropathies and Disorders
- Endoplasmic Reticulum Stress and Disease
- Medical Imaging and Pathology Studies
- IgG4-Related and Inflammatory Diseases
- Neuroendocrine Tumor Research Advances
- Thyroid Disorders and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Protein Degradation and Inhibitors
- Parkinson's Disease Mechanisms and Treatments
- Monoclonal and Polyclonal Antibodies Research
- RNA Interference and Gene Delivery
- Skin and Cellular Biology Research
Universidade Federal do Rio de Janeiro
2016-2025
Hospital Universitário Clementino Fraga Filho
2016-2025
USC Norris Comprehensive Cancer Center
2025
Sociedade Brasileira de Cardiologia
2021
George Washington University
2020
University of Alabama at Birmingham
2020
Instituto Evandro Chagas
2020
Fundação Oswaldo Cruz
2020
Ionis Pharmaceuticals (United States)
2019
University of Pennsylvania Health System
2018
Transthyretin amyloid cardiomyopathy is caused by the deposition of transthyretin fibrils in myocardium. The occurs when wild-type or variant becomes unstable and misfolds. Tafamidis binds to transthyretin, preventing tetramer dissociation amyloidogenesis.In a multicenter, international, double-blind, placebo-controlled, phase 3 trial, we randomly assigned 441 patients with 2:1:2 ratio receive 80 mg tafamidis, 20 placebo for 30 months. In primary analysis, hierarchically assessed all-cause...
Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide variants in the gene encoding (TTR) that induce misfolding and systemic deposition of amyloid. Progressive amyloid accumulation leads to multiorgan dysfunction death. Inotersen, a 2′-O-methoxyethyl–modified antisense oligonucleotide, inhibits hepatic production transthyretin.
Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence its benefit. We conducted multicenter, randomized trial comparing thymectomy plus prednisone with alone.We compared extended transsternal alternate-day alone. Patients 18 to 65 years age who had generalized nonthymomatous gravis disease duration less than 5 were included if they Myasthenia Gravis Foundation America clinical class II IV (on scale from I V, higher classes indicating more...
To evaluate the efficacy and safety of 18 months tafamidis treatment in patients with early-stage V30M transthyretin familial amyloid polyneuropathy (TTR-FAP).In this randomized, double-blind trial, received 20 mg QD or placebo. Coprimary endpoints were Neuropathy Impairment Score-Lower Limbs (NIS-LL) responder analysis (<2-point worsening) treatment-group difference mean change from baseline Norfolk Quality Life-Diabetic total score (TQOL) intent-to-treat (ITT) population (n = 125). These...
Tafamidis, a transthyretin (TTR) kinetic stabilizer, delayed neuropathic progression in patients with Val30Met TTR familial amyloid polyneuropathy (TTR-FAP) an 18-month randomized controlled trial (study Fx-005). This 12-month, open-label extension study evaluated the long-term safety, tolerability, and efficacy of tafamidis 20 mg once daily 86 who earlier received blinded treatment or placebo. Efficacy measures included Neuropathy Impairment Score Lower Limbs (NIS-LL), Norfolk Quality...
Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated safety, tolerability, pharmacokinetics, and pharmacodynamics of multiple doses patisiran (ALN-TTR02), a small interfering RNA encapsulated within lipid nanoparticles, patients with transthyretin-mediated familial amyloid polyneuropathy (FAP). In this phase II study, FAP were administered 2 intravenous infusions at one following doses: 0.01...
Until recently, liver transplantation (Ltx) was the only available treatment for hereditary transthyretin (TTR) amyloidosis; today, however, several pharmacotherapies are tested. Herein, we present survival data from largest database on transplanted TTR patients to serve as a base comparison.Liver evaluated in 20-year retrospective analysis of Familial Amyloidosis Polyneuropathy World Transplant Registry.From April 1990 until December 2010, were accumulated 77 transplant centers. The...
ABSTRACT Introduction : This study sought to estimate the global prevalence of transthyretin familial amyloid polyneuropathy (ATTR‐FAP). Methods Prevalence estimates and information supporting calculations was extracted from records yielded by reference‐database searches (2005–2016), conference proceedings, nonpeer reviewed sources. calculated as rate multiplied general population size, then extrapolated countries without but with reported cases. Results Searches returned 3,006 records;...
Importance Transthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis. Objective To evaluate eplontersen, investigational ligand-conjugated antisense oligonucleotide, in ATTRv polyneuropathy. Design, Setting, and Participants NEURO-TTRansform was open-label, single-group, phase 3 trial conducted at 40 sites across 15 countries (December 2019-April 2023) 168 adults with Coutinho stage 1 or 2 polyneuropathy, Neuropathy Impairment Score...
Transthyretin hereditary amyloid polyneuropathy, also traditionally known as transthyretin familial polyneuropathy (ATTR-FAP), is a rare, relentless, fatal disorder. Tafamidis, an oral, non-NSAID, highly specific stabilizer, demonstrated safety and efficacy in slowing neuropathy progression early-stage ATTRV30M-FAP 1.5-year, randomized, double-blind, placebo-controlled trial, 1-year open-label extension study, with second long-term study ongoing. Subgroup analysis of the effectiveness...
1. Introdução Nos últimos anos, foram consolidados avanços expressivos no conhecimento de amiloidose cardíaca (AC), trazendo uma profunda reformulação do seu significado clínico. Além haver evidências convincentes que AC seja causa relativamente comum insuficiência com fração ejeção preservada (ICFEP), assistimos o surgimento terapias específicas modificadoras curso natural da doença, capazes prolongar a sobrevida dos pacientes acometidos. Em paralelo, relevantes progressos nas técnicas...
Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt transthyretin amyloid fibrils in heart, peripheral nerves, and other tissues organs.Established 2007, Amyloidosis Outcomes Survey (THAOS) largest ongoing, global, longitudinal observational study patients with ATTR amyloidosis, including both inherited disease, asymptomatic carriers pathogenic TTR mutations. This descriptive analysis examines baseline...
Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt transthyretin amyloid fibrils in various tissues and organs.Established 2007, Amyloidosis Outcomes Survey (THAOS) largest ongoing, global, longitudinal, observational study patients with ATTR amyloidosis, including both hereditary disease, asymptomatic carriers pathogenic TTR mutations. This analysis describes baseline...
Hereditary transthyretin (hATTR) amyloidosis causes progressive polyneuropathy resulting from (TTR) amyloid deposition throughout the body, including peripheral nerves. The efficacy and safety of inotersen, an antisense oligonucleotide inhibitor TTR protein production, were demonstrated in pivotal NEURO-TTR study patients with hATTR polyneuropathy. Here, long-term inotersen are assessed ongoing open-label extension (OLE) study.Patients who completed eligible to enroll OLE (NCT02175004)....
AKCEA-TTR-LRx is a ligand-conjugated antisense (LICA) drug in development for the treatment of hereditary transthyretin amyloidosis (hATTR), fatal disease caused by mutations (TTR) gene. shares same nucleotide sequence as inotersen, an medicine approved use hATTR polyneuropathy (hATTR-PN). Unlike conjugated to triantennary N-acetylgalactosamine moiety that supports receptor-mediated uptake hepatocytes, primary source circulating TTR. This advanced design increases potency allow lower and...