classic infantile-onset Pompe disease

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…

Early treatment with a four times higher dose of Myozyme (alglucosidase alpha) was safe and enabled normal motor development and normalization of markers of muscle damage and disease progression in a boy with classic infantile-onset Pompe disease, according to a study. The study, “Early…

Low-dose treatment with methotrexate can reduce the immune reaction that often accompanies enzyme replacement therapies in infants with Pompe disease, researchers report. Their study, “An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe…

Newborn screening seems better at identifying Pompe disease cases than a clinical examination, especially for classic infantile-onset Pompe disease, according to researchers. Their study, “Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease,” was published in the journal Medical Decision Making Policy & Practice. Screening…

PerkinElmer announced that its in-vitro diagnostic (IVD) kit able to test newborns for the six most commonly screened lysosomal storage disorders (LSDs) has been approved by the U.S. Food and Drug Administration (FDA). The kit, the first commercialized using mass spectrometry instrumentation in the U.S., can screen for all six of…

Adding immunomodulatory medicines to enzyme replacement therapy (ERT) — Myozyme (alglucosidase alfa) — gives temporary but not long-term protection from antibodies that can block ERT’s effectiveness in patients with classic infantile Pompe disease. Better immunomodulatory regimens are needed to induce long-term…

Treatment with Lumizyme (alglucosidase alfa) at double the approved dose may help prevent the rapid decline of respiratory and cardiovascular functions in infants with Pompe disease, a case report suggests. Since the U.S. Food and Drug Administration approved it in 2006, Lumizyme has change the course of Pompe…

Four cases of infantile-onset Pompe disease recently reported in Australia help shed light on some of the unique challenges care providers face in diagnosing and managing this genetic disease. Early recognition of the disease’s signs and prompt initiation of enzyme replacement therapy (ERT) are critical to ensuring the best patient outcome…