A5069097475- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Parkinson's Disease Mechanisms and Treatments
- Studies on Chitinases and Chitosanases
- Hemophilia Treatment and Research
- Trypanosoma species research and implications
- Cystic Fibrosis Research Advances
- Pelvic floor disorders treatments
- Genomics and Rare Diseases
- Urinary Tract Infections Management
- Vitamin K Research Studies
- Biomedical Research and Pathophysiology
- Meta-analysis and systematic reviews
- Neurogenetic and Muscular Disorders Research
- Neurological disorders and treatments
- Child Nutrition and Feeding Issues
- Urinary Bladder and Prostate Research
- Diverse Approaches in Healthcare and Education Studies
- Muscle activation and electromyography studies
- RNA regulation and disease
- Health Education and Validation
- Neurological diseases and metabolism
AVEO Oncology (United States)
2025
Sanofi (United States)
2019-2025
University of Alabama at Birmingham
2024
Emory University
2024
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A activity. The spectrum of includes phenotypes ranging from "classic" to "later-onset," with varying kidney progression. Identifying patterns declining function and involvement other major organs in patients FD important guide therapy decisions.Clusters similar estimated glomerular filtration rate (eGFR) decline age were created using agglomerative clustering data captured between 2007 2020 the...
The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or B (HEXB) genes, respectively. minority of patients have a late-onset form disease that presents from late-childhood to adulthood has slowly progressive course with prolonged survival. Little research been published documenting patient experiences diseases how impacts their daily lives functioning. This study...
Abstract Introduction Long‐acting products are changing the haemophilia A treatment landscape by giving patients and caregivers options with varying product attributes. Aim discrete choice experiment (DCE) was used to elicit attribute preferences among of children A. Materials & methods survey sociodemographics completed an online panel adult (<18 years) The DCE included a series questions in which respondents chose their preferred option from pairs hypothetical profiles systematic...
Abstract Background The systematic collection of disease-specific symptoms and impacts on the lives patients with Fabry Disease (FD) can offer unique insights into patient experience, yet no tool to measure FD exists. This study describes development Patient-Reported Outcome (FD-PRO). Methods A targeted literature search, interviews key opinion leaders (KOLs), concept elicitation (CE) identified most frequent signs associated their impact daily life. Cognitive evaluated patients’ ability...
Fabry disease (FD) is a rare, genetic disease, that if untreated, progresses to irreversible and life-threatening renal, cardiac, cerebrovascular events. FD symptoms impact daily functioning quality of life, but no disease-specific measure these has been psychometrically tested.The Disease Patient-Reported Outcome (FD-PRO) consists 19 items neuropathic (pain, tingling, numbness burning in upper/lower extremities), headache, abdominal pain, heat intolerance, swelling, tinnitus, fatigue,...
<title>Abstract</title> <bold>Background:</bold>Fabry disease (FD) is a rare, progressive disorder caused by pathogenic variants of the<italic>GLA</italic>gene resulting in the accumulation toxic metabolites. Pain hallmark FD, and patients often present with heterogeneous pain profiles. This cross-sectional, web-based survey was conducted to characterize crises FD United States explore effects sex, phenotypes, treatment on pain.<bold>Results:</bold>A total 66 participants (mean [±SD] age:...
Abstract Background Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase A, resulting accumulation of globotriaosylceramide and other glycosphingolipids. Early detection FD challenging, accounting for delayed diagnosis treatment initiation. This study aimed to develop algorithm using a logistic regression model facilitate early identification patients based on ICD-10-GM coding German Sickness Fund Database. Methods The was...