Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study

Autor: Bethania F.R. Ribeiro, Dafne Dain Gandelman Horovitz, Ana Cecília Menezes de Siqueira, Renata C.F. Bonatti, José Francisco da Silva Franco, Erlane Marques Ribeiro, Charles Marques Lourenço, Alexandra Gonçalves, Angelina Xavier Acosta, Ane S.S. Pereira, Liane de Rosso Giuliani, Joao I. C. F. Neri, Chong Ae Kim, Leniza C.L. Lichtvan, Anneliese Lopes Barth, Emília Katiane Embiruçu de Araújo Leão, Marcelo Kerstenetzky, Ana Maria Martins, Thaís B. Teixeira, Maria do Carmo S. Rodrigues, Francisca C. Santos
Rok vydání: 2020
Předmět:
0301 basic medicine
Male
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
Adolescent
N-Acetylgalactosamine-4-Sulfatase
Endocrinology
Diabetes and Metabolism
Urinary system
Mucopolysaccharidosis type VI
030105 genetics & heredity
Biochemistry
Severity of Illness Index
03 medical and health sciences
0302 clinical medicine
Endocrinology
Cognition
Quality of life
Internal medicine
Genetics
medicine
Humans
Enzyme Replacement Therapy
Child
Molecular Biology
Glycosaminoglycans
Mucopolysaccharidosis VI
business.industry
Mortality rate
nutritional and metabolic diseases
Sleep apnea
Enzyme replacement therapy
medicine.disease
Recombinant Proteins
Maroteaux–Lamy syndrome
Phenotype
Child
Preschool
Quality of Life
Female
business
030217 neurology & neurosurgery
Progressive disease
Brazil
Zdroj: Molecular genetics and metabolism. 133(1)
ISSN: 1096-7206
Popis: Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional impairment and shortened lifespan. Enzyme replacement therapy (ERT) with galsulfase has been shown to improve clinical and biochemical parameters including patient survival, quality of life and growth. The present study is a resurvey of 34 Brazilian MPS VI patients with rapidly progressive disease (classical phenotype) who initiated ERT with galsulfase under five years of age and had been on ERT until data collection in 2019, with few exceptions (n = 4 patients who died before 2019). Anthropometric measures, urinary glycosaminoglycans, and data regarding cardiac, orthopedic, neurologic, sleep apnea, hearing and ophthalmologic outcomes were filled in by specialists. Pubertal development, clinical complications, hospitalizations, and surgeries were also assessed. In this resurvey study, treatment with galsulfase has shown to be safe and well tolerated in MPS VI patients who initiated ERT under the age of 5 years and who have been undergoing ERT for approximately 10 years. Mortality rate suggests that early initiation of ERT may have a positive impact on patients' survival, improving but not preventing disease progression and death. MPS VI patients on ERT also showed improved growth velocity and the pubertal development was normal in all surviving patients. Follow-up data on pneumonia and hospitalization suggest that early ERT may have a protective effect against major respiratory complications. Cardiac valve disease progressed since their prior evaluation and spinal cord compression was observed in a large number of patients, suggesting that these disease complications were not modified by ERT.
Databáze: OpenAIRE
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