New clinical biomarkers related to locomotor performance, gait stability, gait pattern, and falls in adults with late-onset Pompe disease (LOPD) have been identified in a study published in the Journal of Neuromuscular Diseases. The main determinant of gait stability, locomotion, and gait pattern in the study was the strength of a patient’s hip abductor muscles,…
Patients with Pompe disease who are being treated with enzyme replacement therapy (ERT) “tend to have precocious puberty,” found a new study published in the journal Frontiers in Oncology. This has a detrimental effect on their adult height. The authors concluded that the growth and puberty of these patients should be followed up regularly “to…
Possible eligibility criteria for Pompe disease (PD) patients that could be candidates for enzyme replacement therapy (ERT) with adeno-associated virus (AAV) gene therapy, according to a study recently published in JIMD Reports. “Determining the best parameters to measure efficacy of intervention and overcoming immune phenomena are problems that are broadly relevant as AAV vector-mediated gene…
There is a hidden population of patients with late-onset Pompe disease (LOPD) in internal medicine departments, according to a study conducted in Spain. These patients may benefit from early diagnosis and early treatment initiation, according to the authors. The researchers set out to determine the prevalence of LOPD in patients who have not previously been…
A concatenated 3-compartment pharmacokinetic (PK) model describing concentrations of avalgucosidase alfa (AvGα) in patients with late-onset Pompe disease (LOPD) was created and described in a study published in Therapeutic Drug Monitoring. Using pooled population PK (PopPK) data from 3 clinical trials, a plasma drug concentration curve with 2 kinetic sequences was identified. The first phase…
Researchers from Germany reported the case of a patient with infantile-onset Pompe disease whose clinical condition “improved dramatically” with cipaglucosidase alfa/miglustat treatment. This is the first clinical application of the new enzyme replacement therapy (ERT) in a child with the disease. Read more about PD therapies The condition of the patient worsened seriously even with high-dose…
Patient reported outcome instruments, which include Pompe Disease Symptom Scale (PDSS) and Pompe Disease Impact Scale (PDIS), appear to be reliable measures of the severity of symptoms and functional compromise in patients with late-onset Pompe disease (PD), according to a recently published study published in Neurology Clinical Practice. Due to the difficulty in accurately characterizing and…
Researchers from Brazil conducted a pilot study of newborn screening for 6 lysosomal diseases including Pompe disease using tandem mass spectrometry. This is the first pilot study of newborn screening in this country using this approach for the analysis of these lysosomal diseases. Apart from Pompe disease, the other lysosomal diseases that were analyzed were…
Enzyme replacement therapy (ERT) has a positive impact on bone density in patients with late-onset Pompe disease (LOPD), found a new study published in the journal Molecular Genetics and Metabolism. This effect is associated with the duration of treatment and is independent of the patient’s age. “We hope this study increase[s] awareness of the risk…
The French Pompe disease (PD) registry provides useful, long-term data on the course of late-onset PD (LOPD) and patients’ responses to enzyme replacement therapy (ERT) with alglucosidase alfa, according to a report published in Neurology. The report describes data from 210 patients and their changes in characteristics over time. Of the patients included in the…
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