A5101639971- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Child Nutrition and Feeding Issues
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Health Systems, Economic Evaluations, Quality of Life
- Biochemical and Molecular Research
- Trypanosoma species research and implications
- Cystic Fibrosis Research Advances
- Studies on Chitinases and Chitosanases
- Family and Disability Support Research
- Biomedical Research and Pathophysiology
- Patient Satisfaction in Healthcare
- Parasitic Diseases Research and Treatment
- Glycosylation and Glycoproteins Research
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Nausea and vomiting management
- Mental Health Treatment and Access
- Spinal Dysraphism and Malformations
- Electrolyte and hormonal disorders
- Retinal Development and Disorders
- Musicians’ Health and Performance
- Pregnancy and Medication Impact
Jahra Hospital
2025
An-Najah National University
2023-2024
National University Hospital
2024
Sanofi (United States)
2012-2024
Rafik Hariri University Hospital
2024
Sanofi (Netherlands)
2023
Erasmus MC
2023
Duke Medical Center
2023
University of Kansas Medical Center
2023
Sanofi (France)
2017-2023
Gaucher disease type 3 (GD3) is a genetic, progressive lysosomal storage disorder characterized by visceral manifestations and chronic neurologic symptoms (e.g., horizontal ophthalmoplegia/supranuclear gaze palsy, ataxia, dystonia). The investigational agent venglustat being studied in combination with imiglucerase as potential treatment for systemic neuronopathic of GD3 single-arm, open-label, phase 2 trial (LEAP; N = 11). To understand perceived changes from the perspectives patients,...
Fabry disease is a rare, X-linked genetic disorder that, if untreated in patients with the Classic phenotype, often progresses to end-stage kidney disease. This meta-analysis determined effect of agalsidase beta on loss estimated glomerular filtration rate (eGFR) phenotype using an expansive evidence base individual patient-level data.The included four Sanofi-Genzyme studies and six from systematic literature review. These were restricted meeting eligibility criteria Phases III IV trials,...
Abstract Background Clinical trials for rare diseases often include multiple endpoints that capture the effects of treatment on different disease domains. In many diseases, primary endpoint is not standardized across trials. The win ratio approach was designed to analyze interest in clinical and has mostly been applied cardiovascular Here, we data from COMET, a phase 3 trial late-onset Pompe disease, illustrate how this can be used orphan drug context. Methods All possible participant...
The late-onset GM2 gangliosidoses, comprising Tay-Sachs and Sandhoff diseases, are rare, slowly progressive, neurogenetic disorders primarily characterized by neurogenic weakness, ataxia, dysarthria. aim of this longitudinal study was to characterize the natural history gangliosidoses using a number clinical outcome assessments measure different aspects disease burden progression over time, including neurological, functional, quality life, inform design future interventional trials. Patients...
The Phase 3 COMET trial (NCT02782741) comparing avalglucosidase alfa and alglucosidase included health-related quality of life (HRQoL) assessments in treatment-naïve patients with late-onset Pompe disease (LOPD). Here, we further characterize results from disease-specific general patient-reported outcome (PRO) measures. Adults who participated the receiving or (both 20 mg/kg biweekly) during 49-week double-blind treatment period were analysis. Proportions exceeding meaningful change...
Late-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by range of symptoms varying in severity. Research establishing the frequency these and their impact on patients' daily lives limited. The objective this study was to develop conceptual model that captures most relevant functional limitations experienced patients with LOPD, inform development new patient-reported outcome (PRO) tools. A preliminary constructed following literature review revised through interviews...
Objectives: Patient preferences should be a central consideration in healthcare decision making. However, stories of patients challenging regulatory and reimbursement decisions has led to questions on whether patient voices are being considered sufficiently during those making processes. This some argue that it is necessary quantify before they can adequately considered. Methods: study considers the lessons from use multi-criteria analysis (MCDA) for efforts preferences. It defines MCDA...
Late-onset Pompe disease (LOPD) is a rare genetic disorder due to the absence or deficiency of acid alpha-glucosidase enzyme resulting in slowly progressing reduction muscle strength, causing difficulties with mobility and respiration. Wearable technologies offer novel options evaluate real-world setting. LOPD patients self-reporting LOPD, ≥18 years, US residents, walking (with without aid), not on invasive ventilation were recruited for 6- 8-week wearable study via patient organizations....
*Department of Otolaryngology, Ophthalmology Research Institute, Cairo, Egypt, and †Department Histopathology, House Ear Los Angeles, California, U.S.A. Address correspondence reprint requests to Fred H. Linthicum Jr., M.D., Department 2100 W. 3rd Street, CA 90057, U.S.A.; E-mail: [email protected]
The Pompe Disease Symptom Scale (PDSS) and Impact (PDIS) were created to measure the severity of symptoms functional limitations experienced by patients with late-onset disease (LOPD). objectives this analysis establish a scoring algorithm examine reliability, validity, responsiveness measures using data from COMET clinical trial.The trial was randomized, double-blind study comparing efficacy safety avalglucosidase alfa alglucosidase in LOPD aged 16-78 years at baseline. Adult participants...
The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed new framework, consisting of health states, transition probabilities between those and preferences states (utilities) based on the DS3 to predict long-term outcomes patients starting treatment. defined nine mutually exclusive (alive) three categories: mild (0 ≤ 3.5) without symptoms bone disease; with pain, severe skeletal complications (SSC) as lytic lesions,...
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...
Information on the effectiveness of newer antidepressants like serotonin-norepinephrine reuptake inhibitors in terms healthcare utilization is limited. Treatment guidelines affect evaluation. Second-line medications are usually prescribed to patients with higher utilization.The objective this study was compare within Veterans Affairs (VA) system basis number outpatient psychiatric visits for each class antidepressants.We conducted a retrospective cohort design using precollected information...
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...