A5014974503- Lysosomal Storage Disorders Research
- Calcium signaling and nucleotide metabolism
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Biomedical Research and Pathophysiology
- Trypanosoma species research and implications
- Child Nutrition and Feeding Issues
- Autoimmune and Inflammatory Disorders Research
- Carbohydrate Chemistry and Synthesis
- Erythrocyte Function and Pathophysiology
- Asthma and respiratory diseases
- Family and Disability Support Research
- Allergic Rhinitis and Sensitization
- Cerebral Palsy and Movement Disorders
- Neonatal Health and Biochemistry
- Cholesterol and Lipid Metabolism
- Dermatology and Skin Diseases
- Sleep and Wakefulness Research
- Research on Leishmaniasis Studies
- Advanced MRI Techniques and Applications
- Lipid metabolism and biosynthesis
- Lipoproteins and Cardiovascular Health
- Glycosylation and Glycoproteins Research
- Studies on Chitinases and Chitosanases
- Parkinson's Disease Mechanisms and Treatments
Charles University
2012-2023
Centre for the Observation and Modelling of Earthquakes, Volcanoes and Tectonics
2023
General University Hospital in Prague
2010-2021
Ludwig-Maximilians-Universität München
2015
University Medical Center of the Johannes Gutenberg University Mainz
2015
Johannes Gutenberg University Mainz
2015
Comenius University Bratislava
2015
Lurie Children's Hospital
2015
Cholesteryl ester storage disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), is underappreciated cause progressive liver with no approved therapy. Presenting features include dyslipidemia, elevated transaminases, and hepatomegaly. To assess the clinical effects safety recombinant human LAL, sebelipase alfa, nine patients received four once-weekly infusions (0.35, 1, or 3 mg·kg(-1) ) in LAL-CL01, which first study this investigational agent. Patients completing LAL-CL01...
The aim of this study was to characterize key clinical manifestations lysosomal acid lipase deficiency (LAL D) in children and adults.Investigators reviewed medical records LAL D patients ages ≥5 years, extracted historical data, obtained prospective laboratory imaging data on living develop a longitudinal dataset.A total 49 were enrolled; 48 had confirmed D. Mean age at first disease-related abnormality 9.0 years (range 0-42); mean diagnosis 15.2 1-46). Twenty-nine (60%) male patients, 27...
<h3>Objective:</h3> To assess the effects of modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality life patients with Niemann-Pick type C (NP-C) disease. <h3>Methods:</h3> Twelve NP-C disease were treated AL 3 g/d for 1 week then 5 weeks a subsequent washout period month. The Scale Assessment Rating Ataxia (SARA), Spinocerebellar Functional Index (SCAFI), Disability (mDRS), EuroQol 5Q-5D-5L, visual analog scale (VAS) administered. Measurements took place...
In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC) percent predicted and 6-minute walk test (6MWT) compared with alglucosidase alfa.
Lysosomal acid lipase deficiency is an autosomal recessive enzyme resulting in lysosomal accumulation of cholesteryl esters and triglycerides. LAL-CL04, ongoing extension study, investigates the long-term effects sebelipase alfa, a recombinant human lipase.Sebelipase alfa (1mg/kg or 3mg/kg) was infused every-other-week to eligible subjects. Safety tolerability assessments, including liver function, lipid profiles volume assessment, were carried out at regular intervals.216 infusions...
Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at onset, available therapies are directed alleviating stabilizing progression. We report the characteristics factors related to progression, analyze effect miglustat treatment on progression patient survival using disability scales. This retrospective, observational chart review included patients from five expert...
To evaluate the function of oculomotor and vestibular systems to correlate these findings with clinical status patients Gaucher disease type 3 (GD3). The goal this cross-sectional longitudinal study was find biomarkers for future trials.Twenty-six GD3 were assessed eligibility 21 able perform at least one task. Horizontal vertical reflexive saccades, smooth pursuit, gaze-holding, optokinetic nystagmus, horizontal vestibulo-ocular reflex (VOR) examined by video-oculography/video-head impulse...
Mucopolysaccharidoses (MPS) are severe, inherited metabolic disorders caused by storage of glycosaminoglycans (GAGs). Sanfilippo disease (mucopolysaccharidosis type III, MPS III) is described as severe neurological MPS, characterized rapid deterioration brain functions. No therapy for approved to date, however, a specific substrate reduction (SRT), called gene expression-targeted isoflavone (GET IT), has been used an experimental therapy. In this report, we describe effects treatment six...
The aim of this study was to describe the natural clinical course, incidence and prevalence mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, Central Eastern Europe.Patients (n = 49) were identified by retrieving data from eight international centers for MPS VI.A large number patients presented with an attenuated phenotype (33%). Height genotype related severity disease, while no clear trend observed between height urinary glycosaminoglycan level. A high p.R152W mutation both...
Abstract Background and Aims Lysosomal acid lipase deficiency is characterized by hepatomegaly dyslipidaemia, which can lead to cirrhosis premature atherosclerosis. Sebelipase alfa an approved recombinant human lysosomal lipase. In open‐label extension study of adults with (LAL‐CL04), sebelipase treatment for 1 year reduced serum transaminase levels liver fat content improved lipid levels. Methods Final data from LAL‐CL04 are reported herein patients who received infusions (1.0 or 3.0 mg/kg...
An increase in immunoglobulin free light chains (FLC) was recently described several pathological conditions, including asthma. FLC pathology is classically associated with monoclonal gammopathies. Its association allergic disorders surprising and unexplained. We therefore tested a cohort of children severe atopic dermatitis (SCORAD 50–80) to determine the serum levels kappa lambda chains, correlated results clinical status relevant laboratory markers. Seventy-three patients forms AD, all...
Abstract Objective To characterize ocular motor function in patients with Niemann‐Pick disease type C (NPC). Methods In a multicontinental, cross‐sectional study we characterized ocular‐motor 72 from 12 countries by video‐oculography. Interlinking severity, also searched for biomarkers. Our protocol comprised reflexive and self‐paced saccades, smooth pursuit, gaze‐holding horizontal vertical planes. Data were compared those of 158 healthy controls (HC). Results Some 98.2% generated saccades...
Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis NP-C challenging due to heterogeneous nonspecific clinical presentation disease. Suspicion Index (SI) was developed aid screening and identification patients suspicion for further evaluation. Here we assess performance five SI models identify compared practice determine best model each form by age. This post hoc analysis retrospective chart review...