Isabel Conceição
A5065854605- Amyloidosis: Diagnosis, Treatment, Outcomes
- Parathyroid Disorders and Treatments
- Cellular transport and secretion
- Alzheimer's disease research and treatments
- Peripheral Neuropathies and Disorders
- Protein Kinase Regulation and GTPase Signaling
- Dermatological and Skeletal Disorders
- Eosinophilic Disorders and Syndromes
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Peptidase Inhibition and Analysis
- Sarcoidosis and Beryllium Toxicity Research
- Ion channel regulation and function
- Neuroendocrine Tumor Research Advances
- Myasthenia Gravis and Thymoma
- Cardiac electrophysiology and arrhythmias
- IgG4-Related and Inflammatory Diseases
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Skin and Cellular Biology Research
- Pneumocystis jirovecii pneumonia detection and treatment
- Hereditary Neurological Disorders
- Lysosomal Storage Disorders Research
University of Lisbon
2016-2025
Hospital de Santa Maria
2016-2025
Centro Hospitalar Lisboa Norte
2015-2024
Hospital de Egas Moniz
1993-2024
Administração Regional de Saúde de Lisboa e Vale do Tejo
2024
Centro Hospitalar de Lisboa Central
2021
Instituto de Medicina Molecular João Lobo Antunes
2011-2019
Azienda Ospedaliera San Gerardo
2019
Ionis Pharmaceuticals (United States)
2019
National Legal Medicine Institute
2019
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.
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...
Diagnosis in the early stages of hereditary transthyretin (ATTR) amyloidosis is imperative to support timely treatment prevent or delay disease progression. Genetic testing setting genetic counselling enables identification carriers a TTR gene mutation who are therefore at risk developing TTR-associated disease. Knowledge different genotypes and how they manifest symptomatic should facilitate development structured targeted approach enable diagnosis ATTR on first manifestation earliest...
The recent approval of three drugs for the treatment amyloid transthyretin (ATTR) amyloidosis, both hereditary and wild-type, has opened a new era in care these diseases. ATTR amyloidosis is embedded its pathophysiology, target critical steps cascade. In addition to liver transplant, which removes pathogenic variants, introduction gene silencers allowed suppression wild type mutant (TTR), thus extending potential therapeutic range wild-type cardiac amyloidosis. kinetic stabilisation TTR...
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...
HELIOS-A was a Phase 3, open-label study of vutrisiran, an RNA interference therapeutic, in patients with hereditary transthyretin (ATTRv) amyloidosis polyneuropathy. This analysis evaluated vutrisiran's impact on exploratory cardiac endpoints patients.
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...
Importance There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) RNA interference (RNAi) therapeutics in general. This study presents the longest-term to date patisiran for hATTR-PN. Objective To present adults Design, Setting, Participants global open-label extension (OLE) APOLLO randomized clinical trial phase 2 OLE enrolled patients from 43 hospitals or centers across 19 countries between July 2015 August 2017,...
Abstract We compared early‐ with late‐onset cases in 86 patients familial amyloidotic polyneuropathy type I (FAP). Among these patients, 43 presented before age 50 (early‐onset) and after this (late‐onset). Sex geographical distribution were similar, although a family history of the disorder was more frequent early‐onset cases. In disease, autonomic dysfunction less frequent, but organ involvement severe neuropathic pain frequent. Neurophysiological measurements similar. FAP is cause...
Background— Transthyretin familial amyloid polyneuropathy is a hereditary form of amyloidosis characterized by sensorimotor and autonomic neuropathy, cardiac conduction defects, infiltrative cardiomyopathy. Previous studies have suggested that myocardial sympathetic denervation assessed 123-iodine metaiodobenzylguanidine (MIBG) imaging occurs early in disease progression. However, its prognostic significance was never evaluated. We aimed to study the long-term value detected MIBG...
<h3>Objective</h3> To assess the natural history and treatment effect on survival among patients with transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) stage 1 Val30Met. <h3>Methods</h3> Multi-institutional, hospital-based study of TTR-FAP Val30Met prospectively followed up until December 2016, grouped into untreated (n = 1,771), liver transplant (LTx)-treated 957), or tafamidis-treated 432) cohorts. Standardized mortality ratios, Kaplan-Meier, Cox methods were used to...
Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a rare, hereditary, progressive and neurodegenerative disease. We aimed to study -TTR-FAP epidemiology in Portugal.National, observational, prospective retrospective, case identification of adults with TTR-FAP. Countrywide patient multiple sources included reference centers registries centralized medical electronic prescription database. Crude rates were reported per 100,000 adult inhabitants.Over 2010-2016 period, mean...
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)....
Background: Transthyretin amyloidosis due to V30M mutation (ATTR-V30M) is the most frequent hereditary ATTR amyloidosis. Besides neurophysiological measures, there are no biomarkers detect preclinical disease or monitor progression. CSF plasma neurofilament light chain (pNfL) have recently been considered sensitive quantitate neuro-axonal damage in several disorders of peripheral and central nervous system.Objective: Characterise NfL levels a series untreated ATTR-V30M patients stratified by...