Two-step process successfully diagnoses over 700 Pompe patients

A two-step process used to screen thousands of people with suspected Pompe disease led to diagnoses of the rare genetic condition in more than 700 individuals across 50-plus nations, a new retrospective study reports. The researchers used both biochemical and genetic testing to analyze more than 30,000 blood-spot…

Early ERT Is Key to Better Outcomes in Infantile-onset Pompe Study

Enzyme replacement therapy (ERT) given as early as possible may lead to better outcomes in children with classic infantile-onset Pompe disease (IOPD), according to a long-term study conducted in Taiwan. “Our study demonstrates that administering ERT as soon as feasible and employing short-term hydrocortisone premedication leads to better…

Direct Referral to Expert Centers May Lead to Early Pompe Diagnosis, Study Suggests

People with Pompe disease symptoms who are not directly referred to expert centers for a diagnostic work-up tend to take much longer to be properly diagnosed with this rare genetic disorder, a study shows. Researchers say facilitating direct referral might help with early diagnosis of Pompe. The study,…