classic infantile-onset Pompe disease

Adding a preventive short-course immunomodulatory regimen — rituximab, methotrexate, and intravenous immunoglobulins (IVIG) — to enzyme replacement therapy (ERT) safely provides long-term protection from antibodies that can block ERT’s effectiveness in children with classic infantile Pompe disease, a study found. These findings highlight that the benefits…

Children with classic infantile Pompe disease on higher and more frequent doses of Myozyme (alglucosidase alfa) live longer without needing respiratory support, and have better motor outcomes, than those who start treatment at the recommended dose, a real-world study reports. Its researchers began treating all infants diagnosed at…

If you are at risk of transmitting Pompe disease to your children, you may be thinking about your reproductive options and interested in prenatal diagnostic testing. What is prenatal diagnosis? Prenatal diagnosis involves performing a genetic test on your baby before birth. Getting genetic material from…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset or late-onset forms of this disorder compared to healthy individuals in the Turkish population, a study shows. As Glc4 (or glucose tetrasaccharide) levels vary with age, identifying appropriate reference…

The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic disorder. A sensitive and inexpensive screening system could improve the prognosis of infants with Pompe disease (PD), the researchers…

Across the U.S., 20 states are now screening newborns for Pompe, the most recent neuromuscular disease added to a list of serious genetic disorders for which infants can be tested shortly after birth, advocacy officers at the Muscular Dystrophy Association (MDA) said. Washington is the latest to…

Speech therapy is commonly used to help Pompe disease patients, especially those diagnosed with the infantile-onset form of the disease. These patients show symptoms such as difficulty breathing, swallowing, and speech articulation due to weakened facial muscles, an enlarged tongue with poor motor control, and…

The Foundation of Caring has given $8 million to support CHOC Children’s efforts to develop next-generation therapies for Pompe disease. In honor of the gift, the program has been renamed the Foundation of Caring Lysosomal Storage Disorder Program at CHOC Children’s. The comprehensive multidisciplinary program…

Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports. The study, “Health utilities and parental quality of life effects for three rare conditions tested in newborns,” was published in the Journal of…