A phase 1/2 clinical trial evaluating the safety and efficacy of an experimental gene therapy for Pompe disease was put on clinical hold by the US Food and Drug Administration (FDA) following a serious adverse event of peripheral sensory neuropathy in 1 patient during the trial. “Patient safety is our top priority,” Weston Miller, MD,…
A diagnosis of Pompe disease can take years and patients suffer with pain and weakness in the meantime.
Researchers reported a rare case of a 4-year-old girl with co-occurrence of Pompe disease and congenital myasthenia syndrome type 5. The case report, published in Cureus, described good results from whole-exome sequencing for an early diagnosis and subsequent alglucosidase alfa enzyme replacement therapy (ERT), which is currently the only approved treatment for Pompe disease. “Early…
Scientists have discovered that improved walking distance is associated with improved quality of life in patients with Pompe disease, and published their findings in Value in Health. In incurable, progressive diseases such as Pompe disease, improving a patient’s quality of life becomes the cornerstone medical objective. Scientists have explored various ways to measure the quality…
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
Researchers presented the case of a baby born at term with multiorgan dysfunction, severe metabolic acidosis, and hyperkalemia. The baby was later diagnosed with neonatal carnitine palmitoyltransferase type 2 (CPT2) deficiency, a form of long chain fatty acid oxidation disorder (LCFAOD), and succumbed to death a few days later. “The neonatal form of [CPT2] deficiency…
Researchers presented 2 cases of pediatric patients with Duchenne muscular dystrophy (DMD) and low acid alpha-glucosidase (GAA) activity and high creatinine kinase (CK) levels in a study published in Frontiers in Pediatrics. Typically, low GAA activity is associated with Pompe disease. In these cases, the infants were initially presumed to have Pompe disease. Upon genetic…
Researchers managed to restore the function of the acid alpha-glucosidase (GAA) enzyme in fibroblasts derived from a patient with infantile-onset Pompe disease (IOPD) using genome editing techniques. They reported their findings at the American Society of Gene and Cell Therapy (ASGCT) 25th Annual Meeting. “The results presented herein underscore the potential of base and prime…
Researchers suggest that immunodeficient patients with lysosomal storage diseases (LSDs) such as Pompe disease (PD) do not have a higher risk of contracting COVID-19 infection in comparison to the healthy population, as published in Archives de Pediatrie. While the potential increase in risk for COVID-19 in these patients is emphasized in the literature, this study…
The administration of a ketone precursor, 1,3-butanediol (BD), increased blood ketone levels and reduced oxidative damage and autophagic buildup in type 2 muscle fibers in a mouse model with Pompe disease (PD), as published in Molecular Genetics and Metabolism. The researchers found that combining BD and antioxidant treatment was more effective than other treatments, including…
