Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.
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Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Cureus
November 2024
Rare Diseases, Rare Diseases Community (RDCom), Buenos Aires, ARG.
Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.
View Article and Find Full Text PDFClinical 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 PDFQuantitative Systems Pharmacology-Based Digital Twins Approach Supplements Clinical Trial Data for Enzyme Replacement Therapies in Pompe Disease.
Clin Pharmacol Ther
December 2024
Translational Disease Modeling, Translational Medicine and Early Development, Sanofi, Bridgewater, New Jersey, USA.
Pompe disease is a rare, progressive neuromuscular disease caused by deficient lysosomal glycogen degradation, and includes both late-onset (LOPD) and severe infantile-onset (IOPD) phenotypes. Due to very small patient numbers in IOPD and the high phenotypic heterogeneity observed in this population, a quantitative systems pharmacology (QSP)-based "digital twin" approach was developed to perform an in silico comparison of the efficacy of avalglucosidase alfa vs. the standard of care, in a virtual population of IOPD patients.
View Article and Find Full Text PDFA novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease.
Mol Ther
November 2024
Center for Medical Education, Ball State University, Muncie, IN 47306, USA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine-Muncie, Muncie, IN 47303, USA. Electronic address:
Article Synopsis
- Pompe disease results from a deficiency in acid alpha-glucosidase, leading to muscle weakness, respiratory issues, and cardiomyopathy in infants; the only current treatment is enzyme replacement therapy (ERT).
- A new approach using a Centyrin protein-conjugated short interfering RNA (siRNA) targets the transferrin receptor (CD71) and the GYS1 enzyme to inhibit glycogen synthesis, potentially restoring glycogen balance instead of just degrading it.
- In tests on a Pompe mouse model, this novel siRNA conjugate effectively reduced GYS1 levels and glycogen accumulation, improving exercise performance, indicating its promise as a therapy for late-onset Pompe disease or in combination with ERT for infants.
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.
Mol Genet Metab
December 2024
Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Article Synopsis
- In three clinical trials involving 142 participants with Pompe disease, 17 were deemed suitable for home infusion of avalglucosidase alfa, receiving a total of 419 supervised infusions.
- The majority of participants with late-onset Pompe disease (LOPD) experienced non-serious adverse events, while those with infantile-onset Pompe disease (IOPD) did not report any adverse effects.
- The safety and adverse event rates during home infusion were comparable to those during clinic infusions, indicating that home administration is feasible and safe for stable patients with a prior good infusion history.
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