Disease progression

Long-term enzyme replacement therapy (ERT) to treat people with Pompe disease loses effectiveness in maintaining walking ability, muscle strength, and lung function, a new study shows. Despite these results, ERT improved lung function when compared to the predicted outcome without ERT, and some patients responded…

Rare genetic diseases such as Pompe disease pose a challenge in effectively communicating your concerns to the doctor. Here are some tips to make the most of your doctor’s visit. Make sure you consult the right doctor Pompe disease is a rare genetic disorder, so not all doctors are…

Aging and vascular risk factors, not enzyme replacement therapy or the disease itself, may increase the risk of late-onset Pompe disease patients developing white matter lesions in the brain, a study suggests. The study, “White matter lesions in treated late onset Pompe disease are not different to matched controls,”…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of the Pompe mutation database by linking disease-associated variants to clinical severity,” appeared in the journal Human…

Scientists have discovered a genetic variant that might help explain why some people with Pompe disease experience their first symptoms earlier or later in life. The study, “A genetic modifier of symptom onset in Pompe disease,” was published in EBioMedicine. Pompe disease is a rare genetic…

Chinese patients with late-onset Pompe disease develop symptoms and are diagnosed at least 10 years earlier than patients from other areas of the world, a Pompe disease registry shows. The study, “Characteristics of Pompe disease in China: a report from the Pompe registry” was published in the journal…

Muscle repair in Pompe disease is compromised by failed activation of muscle cells’ precursors called satellite cells (SCs), according to a study of mice. The study, “Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II),” was published in…

Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to differentiate between patients with adult-onset Pompe disease and those without the disease, and between patients with and without symptoms, a study reports. These findings suggest that monitoring PDGF-BB could help track disease progression and determine…

Patients with late-onset Pompe disease demonstrated a deterioration in voice quality over a period of three years, but early treatment may stop this progressive impairment, a study reports. The study, “Follow-up analysis of voice quality in patients with late-onset Pompe disease,” was published in the Orphanet Journal…