Consulta: subjectFacets:"Enzyme replacement therapy"
Registros recuperados: 9
Data/hora: 09/06/2024 14:45:26

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
Provedor de dados: 74
Autores: Viana,Gustavo M.; Lima,Nathália O. de; Cavaleiro,Rosely; Alves,Erik; Souza,Isabel C.N.; Feio,Raimunda; Leistner-Segal,Sandra; Schwartz,Ida; Giugliani,Roberto; Silva,Luiz C. Santana da.
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mucopolysaccharidosis; Enzyme replacement therapy; Mutations; Glycosaminoglycans.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300007

Lysosomal diseases: Overview on current diagnosis and treatment
Provedor de dados: 74
Autores: Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,Francyne; Souza,Carolina Fischinger Moura de; Baldo,Guilherme; Giugliani,Roberto.
Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Lysosomal storage diseases; Neonatal screening; Hematopoietic stem cell transplantation; Enzyme replacement therapy; Gene therapy.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165

Clinical research challenges in rare genetic diseases in Brazil
Provedor de dados: 74
Autores: Giugliani,Luciana; Vanzella,Claudia; Zambrano,Marina Bauer; Donis,Karina Carvalho; Wallau,Thaís Klassmann Wendland; Costa,Fernando Machado da; Giugliani,Roberto.
Abstract Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions (80% of them with genetic cause) affect around 8% of the world’s population. Research about the natural history and underlying pathophysiological mechanisms of rare diseases, as well as clinical trials with new drugs, are important and necessary to develop new strategies for the treatment of these conditions. This report describes the experience of a clinical research group working with rare diseases in a reference center for lysosomal diseases in Brazil (Medical Genetics Service, Hospital de Clínicas de Porto Alegre). The...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Clinical research; Clinical investigation; Rare diseases; Lysosomal storage diseases; Enzyme replacement therapy.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200305

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Provedor de dados: 74
Autores: Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verônica; Vieira,Taiane; Artigalás,Osvaldo; Lapagesse Pinto,Louise; Azevedo,Ana Cecília; Acosta,Angelina; Bonfim,Carmen; Lourenço,Charles Marques; Chong Ae,Kim; Horovitz,Dafne; Bonfim,Denize; Norato,Denise; Marinho,Diane; Palhares,Durval; Santos,Emerson Santana; Ribeiro,Erlane; Valadares,Eugênia; Guarany,Fábio; Lucca,Gisele Rosone de; Pimentel,Helena; Souza,Isabel Neves de; Correa Neto,Jordão; Fraga,José Carlos; Goes,José Eduardo; Cabral,José Maria; Simionato,José; Llerena Jr.,Juan; Jardim,Laura; Giuliani,Liane; Silva,Luiz Carlos Santana da; Santos,Mara L.; Moreira,Maria Angela; Kerstenetzky,Marcelo; Ribeiro,Márcia; Ruas,Nicole; Barrios,Patricia; Aranda,Paulo; Honjo,Rachel; Boy,Raquel; Costa,Ronaldo; Souza,Carolina; Alcantara,Flavio F.; Avilla,Silvio Gilberto A.; Fagondes,Simone; Martins,Ana Maria.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mucopolisaccharidoses; Hurler syndrome; Hunter syndrome; Maroteaux-Lamy syndrome; Enzyme replacement therapy; Treatment guidelines.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
Provedor de dados: 74
Autores: Giugliani,Roberto; Villarreal,Martha Luz Solano; Valdez,C. Araceli Arellano; Hawilou,Antonieta Mahfoud; Guelbert,Norberto; Garzón,Luz Norela Correa; Martins,Ana Maria; Acosta,Angelina; Cabello,Juan Francisco; Lemes,Aída; Santos,Mara Lucia Schmitz Ferreira; Amartino,Hernán.
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Hunter syndrome; Lysosomal disease; Iduronate-2-sulfatase; Enzyme replacement therapy; Treatment guidelines.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300003

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Provedor de dados: 74
Autores: Dornelles,Alícia Dorneles; Pinto,Louise Lapagesse de Camargo; Paula,Ana Carolina de; Steiner,Carlos Eduardo; Lourenço,Charles Marques; Kim,Chong Ae; Horovitz,Dafne Dain Gandelman; Ribeiro,Erlane Marques; Valadares,Eugênia Ribeiro; Goulart,Isabela; Souza,Isabel C. Neves de; Neri,João Ivanildo da Costa; Santana-da-Silva,Luiz Carlos; Silva,Luiz Roberto; Ribeiro,Márcia; Oliveira Sobrinho,Ruy Pires de; Giuglianiand,Roberto; Schwartz,Ida Vanessa Doederlein.
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Enzyme replacement therapy; Laronidase; Mucopolysaccharidosis Type I; Alph-L-iduronidase.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100006

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis
Provedor de dados: 74
Autores: Alegra,Taciane; Vairo,Filippo; de Souza,Monica V.; Krug,Bárbara C.; Schwartz,Ida V.D.
The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered similar for the purposes of analysis. Ten RCTs were identified, which showed improvements in neuropathic pain, in heart abnormalities and in globotriaosylceramide (GL-3) levels. A meta-analysis showed increased odds for fever, rigors, development of IgG antibodies to agalsidase, and no significant association with development of hypertension or reduction in the QRS...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fabry disease; Fabry disease/therapy; Enzyme replacement therapy; Alpha-Galactosidase.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600009

Mucopolysacccharidoses: from understanding to treatment, a century of discoveries
Provedor de dados: 74
Autores: Giugliani,Roberto.
After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or GAGs) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as "mucopolysaccharidoses" (MPS). In the late 1960's it was demonstrated that MPS were caused by defects in the breakdown of GAGs, and the specific enzyme deficiencies for the 11 types and subtypes of MPS were identified thereafter. Genes involved in the MPS were subsequently identified, and a large number of disease-causing mutations were...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mucopoloysaccharidoses; Lysosomal diseases; Enzyme replacement therapy; Prenatal diagnosis; Newborn screening.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600006

Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
Provedor de dados: 74
Autores: Giugliani,Roberto; Westwood,Stephanie; Wellhoefer,Hartmann; Schenk,Jörn; Gurevich,Andrey; Kampmann,Christoph.
Abstract Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFD published in 2017 by El Dib and coworkers made treatment recommendations that contradict previously published findings from RCTs and a systematic Cochrane review. Our commentary outlines concerns regarding selection criteria and statistical methods with their analysis.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Agalsidase alfa; Agalsidase beta; Anderson-Fabry disease; Enzyme replacement therapy.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500790