New Screening Test for Pompe Disease Developed

Researchers have developed a new screening test for Pompe disease that is more sensitive than other options, says a report from January.
Pompe disease is a muscular disorder caused by certain mutations found in the GAA gene. The disease causes high levels of glycogen, a complex sugar found at the cellular level, to accumulate. Because Pompe disease patients can’t process the glycogen built up in their bodies, various muscle, tissue, and organ function is impaired. Common symptoms include muscle weakness, liver problems and enlargement, heart issues, and difficulty breathing. To learn more about Pompe disease, click here.

While Pompe disease can start any time between birth and adulthood, when it occurs in infants, it tends to progress a lot faster and be more severe. Because of this, it is important to start treatment early. But treatment can’t start until the patient has been diagnosed, which is where screening comes in.

This new test detects the presence of over four types of lymphocytes (a type of white blood cell) possessing glycogen in blood films taken from patients. Its results yielded 100% sensitivity and 94% specificity identifying Pompe disease. It will also help physicians differentiate Pompe disease from other neuromuscular disorders.

The people conducting the study are a team of researchers from the University of Campania “Luigi Vanvitelli” in Italy. They did this in association with the Sbarro Health Research Organization (SHRO) at Temple University, Philadelphia. SHRO is a non-profit charity dedicated to funding genetic research. It works to cure and diagnose cancer, diseases, and other chronic illnesses.

The researchers knew that Pompe disease is an under-diagnosed disorder, meaning that many people have it who are never diagnosed. Now, especially since therapy for the disease is now available, early diagnosis is more important than ever. The team proposed this screening method as a simple, noninvasive, yet accurate new way to diagnose.

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