Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053031 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2016.09.008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Real-World Data Analysis of Alglucosidase Alfa in the FDA Adverse Event Reporting System (FAERS) Database.
Drugs R D
January 2025
Department of Pediatric Intensive Care Unit, Shandong, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 324 Jingwu Road, Ji'nan, Shandong, China.
Background And Objective: Alglucosidase alfa for injection is used as an enzyme replacement therapy for the treatment of Pompe disease. The safety profile of alglucosidase alfa-associated adverse events requires a comprehensive evaluation. In this study, we aimed to identify drug safety alert signals and investigate the real-world safety of alglucosidase alfa to guide clinical decision making and optimize the risk-benefit balance.
View Article and Find Full Text PDFChallenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.
J Neurol
January 2025
John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle-upon-Tyne, UK.
PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg + pbo). The primary endpoint was change in 6-min walk distance (6MWD) from baseline to week 52. During PROPEL, COVID-19 interrupted some planned study visits and assessment windows, leading to delayed visits, make-up assessments for patients who missed ≥ 3 successive infusions before planned assessments at weeks 38 and 52, and some advanced visits (end-of-study/early-termination visits).
View Article and Find Full Text PDFAdvances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders.
Semin Respir Crit Care Med
December 2024
Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio.
Article Synopsis
- Neuromuscular disorders significantly impact respiratory function by affecting the muscles involved in breathing, leading to high rates of morbidity and mortality, but new therapies have emerged to help combat these issues.
- Recent FDA-approved treatments for Myasthenia Gravis (MG) and Spinal Muscular Atrophy (SMA) show promising results; therapies targeting the complement system or enhancing SMN protein production improve respiratory function and overall clinical outcomes.
- While advancements in treating Late-Onset Pompe Disease (LOPD) and Amyotrophic Lateral Sclerosis (ALS) have been made, the latter still presents challenges, with new drugs only managing to slow progression rather than halt it.
Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease.
CPT Pharmacometrics Syst Pharmacol
December 2024
Sanofi, Cambridge, Massachusetts, USA.
Infantile-onset Pompe disease (IOPD) is a rare, deadly, quickly-progressing degenerative disease. Even with life-sustaining treatment (e.g.
View Article and Find Full Text PDF[Importance of early treatment and quantitative evaluation of enzyme replacement therapy for Pompe disease: alglucosidase alfa post-marketing surveillance additional analysis].
Rinsho Shinkeigaku
December 2024
Rare Diseases Medical, Specialty Care Medical, Sanofi K.K.
We conducted an additional analysis using the data from the post-marketing surveillance of Alglucosidase alfa for Pompe disease. We aimed to investigate the changes in the percentage of predicted forced vital capacity (%FVC) and the changes in the distance of the 6-min walk test (6MWT) by overall improvement and to investigate the %FVC change by the duration from symptom onset to survey registration (shorter/longer groups) using a linear mixed model. Thirty-seven and eighteen survey participants had %FVC and 6MWT data available, respectively; of the patients whose overall improvement was rated as "relatively improved," %FVC and 6MWT worsened in 71.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!