A5080899318- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Metabolism and Genetic Disorders
- Child Nutrition and Feeding Issues
- Carbohydrate Chemistry and Synthesis
- Folate and B Vitamins Research
- Family and Disability Support Research
- Neonatal Health and Biochemistry
- Spinal Dysraphism and Malformations
- Diet and metabolism studies
- Autoimmune and Inflammatory Disorders Research
- Mitochondrial Function and Pathology
- Biomedical Research and Pathophysiology
- Cellular transport and secretion
- Neurogenetic and Muscular Disorders Research
- Cystic Fibrosis Research Advances
- Calcium signaling and nucleotide metabolism
- Biochemical and Molecular Research
- Genomics and Rare Diseases
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Pediatric Hepatobiliary Diseases and Treatments
- Infant Nutrition and Health
University of Pretoria
2016-2023
North-West University
2021-2023
Nestlé (Switzerland)
2023
Salford Royal NHS Foundation Trust
2012-2022
Steve Biko Hospital
2016-2021
University Medical Center Groningen
2021
Inserm
2021
Université de Tours
2021
Centre Hospitalier Universitaire de Tours
2021
Salford Royal Hospital
2012-2018
Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate progression. Since administration burdensome expensive, appropriate use mandatory. We aimed to define European consensus recommendations for the initiation cessation of ERT patients with FD.A Delphi procedure was conducted an online survey (n = 28) meeting 15). Patient organization representatives were present at give...
Neurodegeneration associated with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders in which disruption cellular mechanisms leads to the basal ganglia. This includes patients recently discovered mutations PLA2G6 gene encoding calcium-independent phospholipase A2 enzyme that catalyzes hydrolysis glycerophospholipids. Previously, children have been diagnosed several different and we wished better define phenotype PLA2G6- neurodegeneration.Detailed review clinical...
PurposeApproximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect impairment because recombinant iduronate-2-sulfatase (idursulfase) penetrate blood–brain barrier at therapeutic concentrations. We examined safety idursulfase formulated for intrathecal administration (idursulfase-IT) via drug delivery device (IDDD). A secondary endpoint was change in...
<h3>Objectives:</h3> Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset particularly difficult diagnose. We developed Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, provide risk prediction score identify patients should undergo testing NP-C. <h3>Methods:</h3> A...
The objectives of this study are to quantify endurance and respiratory function better characterize spectrum symptoms biochemical abnormalities in mucopolysaccharidosis IVA subjects. MorCAP was a multicenter, multinational, cross sectional amended be longitudinal 2011. Each visit required collection medical history, clinical assessments, keratan sulfate (KS) levels. Data from the first 325 subjects (53% female) were available. Mean age 14.5 years. ± SD height z-scores − 5.6 3.1 as determined...
Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The affects multiple body systems, and patients require multidisciplinary care from early age.To better understand natural progression disease, life expectancy common causes death, death certificates were evaluated for 27 (15 male, 12 female) with in UK, covering years 1975-2010.Mean age at...
PurposeThe purpose of this study was to enhance understanding lysosomal acid lipase deficiency (LALD) in infancy.MethodsInvestigators reviewed medical records infants with LALD and summarized data for the overall population patients without early growth failure (GF). Kaplan–Meier survival analyses were conducted treated untreated patients.ResultsRecords 35 patients, 26 GF, analyzed. Prominent symptom manifestations included vomiting, diarrhea, steatorrhea. Median age at death 3.7 months;...
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...
Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). This patient-reported outcomes survey evaluated the global burden among adults (≥18 years, N = 27) children (7-17 36), including impact on mobility, QoL, pain fatigue. QoL was assessed using general Health-Related Quality Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain interference with daily activities...
Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are common cause pediatric neurodegenerative disease. The relatively small number patients with LSDs lack validated biomarkers substantial challenges for clinical trial design. Here, we evaluated the use commercially available fluorescent probe, Lysotracker, that can be used to measure relative acidic compartment volume circulating B cells as potentially universal biomarker LSDs. We this metric mouse...
To report and discuss the multi-domain impact of elosulfase alfa, with focus on tertiary composite endpoints, in 24-week, randomized, double-blind, placebo-controlled phase 3 trial patients Morquio A syndrome (mucopolysaccharidosis IVA).Patients aged ≥5 years were randomized 1:1:1 to alfa 2.0mg/kg/week (qw; N=58), 2.0mg/kg/every other week (qow; N=59), or placebo (N=59) for 24 weeks. Primary secondary efficacy measures 6-minute walk test (6MWT; primary), 3-minute stair climb (3-MSCT) urinary...