A5022496894- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Virus-based gene therapy research
- Biomedical Research and Pathophysiology
- Sphingolipid Metabolism and Signaling
- Erythrocyte Function and Pathophysiology
- Metabolism and Genetic Disorders
- Carbohydrate Chemistry and Synthesis
- Autoimmune and Inflammatory Disorders Research
- Neurogenetic and Muscular Disorders Research
- Neonatal Respiratory Health Research
- CRISPR and Genetic Engineering
- RNA Interference and Gene Delivery
- Child Nutrition and Feeding Issues
- Pancreatitis Pathology and Treatment
- Calcium signaling and nucleotide metabolism
- Spinal Dysraphism and Malformations
- Glycosylation and Glycoproteins Research
- Mitochondrial Function and Pathology
- Neonatal Health and Biochemistry
- Health Systems, Economic Evaluations, Quality of Life
University of Udine
2019-2025
Azienda Unità Sanitaria Locale di Ferrara
2022-2024
European Brain Research Institute
2015-2023
Ospedale Santa Maria della Misericordia di Udine
2019-2023
University of Florence
2023
University of Padua
2010-2019
Helios Dr. Horst Schmidt Kliniken Wiesbaden
2014-2019
Città della Speranza Foundation
2017-2019
Zentrum für Kinderheilkunde
2015
Azienda Ospedaliera di Padova
2009-2015
Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children adults with lysosomal deficiency, underappreciated cause cirrhosis severe dyslipidemia.
Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, progression are heterogeneous, patients may present with many different manifestations wide range specialists. Expertise diagnosing managing MPS varies widely between countries,...
We have compared the efficiency of direct gene transfer in normal and regenerating rat skeletal muscle. Muscle necrosis regeneration was induced by intramuscular injection bupivacaine soleus muscle adult rats. Plasmids containing β-galactosidase (β-gal) or chloramphenicol acetyltransferase (CAT) genes driven viral promoters were injected 3 days after treatment into contralateral uninjured muscles. Expression CAT activity >80-fold higher to control muscles at 7 post-transfection, but...
Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs degradation keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations MPS present numerous challenges for management necessitate need individualised treatment. Although treatment guidelines are available, methodology used to develop this guidance has come under...
PurposeThis trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations acid sphingomyelinase deficiency (ASMD) in adults.MethodsA phase 2/3, 52 week, international, double-blind, placebo-controlled (ASCEND; NCT02004691/EudraCT 2015-000371-26) enrolled 36 adults with ASMD randomized 1:1 receive or placebo intravenously every 2 weeks intrapatient dose escalation 3 mg/kg. Primary endpoints were percent change from...
To assess olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.
Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is predicted cross the blood-brain barrier. Nearly all published experience ERT therefore in patients without cognitive impairment (attenuated phenotype). Little formal guidance available on issues surrounding cognitively impaired severe phenotype. An expert panel was convened provide these issues. The clinical of 66 suggests that somatic improvements (e.g., reduction liver...
Abstract Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). was studied patients during long‐term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rh N ‐acetylgalactosamine 4‐sulfatase). tests prior to and for up 240 weeks of weekly infusions rhASB at 1 mg/kg were completed 56 Phase 1/2, 2, 3 Extension trials the Survey Study. Forced vital capacity (FVC), forced expiratory volume s (FEV1) and, a subset patients, maximum...