News 2022-10-24
Taipei Times: Newborn screening transforming lives in Taiwan: study

Sources Materials from Taipei Times: 

TIME MATTERS: Taipei Veterans General Hospital can start treatment for Pompe disease within 9.75 days, resulting in far less muscular damage


    A Taiwanese hospital’s research highlights how nationwide newborn screening programs allow the country’s medical sector to diagnose and treat rare diseases such as Infantile-onset Pompe disease (IOPD).

The study, published in the Journal of Medical Genetics last month, says that “starting enzyme replacement therapy (ERT) before severe irreversible muscular damage” is essential to treating IOPD.

Study coauthor Yang Chia-feng (楊佳鳳), a doctor at Taipei Veterans General Hospital’s Department of Pediatrics, told reporters on Tuesday that infants diagnosed with IOPD die of heart and lung failure before they are two years old, and the mortality rate is 100 percent.

Contributing author Niu Dau-ming (牛道明), head of the hospital’s Department of Pediatrics, said that Pompe disease is a rare autosomal recessive metabolic disorder that results in the body being unable to process glycogen, the buildup of which damages muscle and nerve cells.

Every year 35,000 to 40,000 children are born in Taiwan, of which one is usually diagnosed with Pompe disease, Niu said.

Due to routine procedures involving muscle biopsies and genetic exams, as well as the National Health Insurance application process for medication approval, it can take three months before a case can start treatment, Niu said.

Citing examples from other countries since 2005 when ERT was first introduced, Yang said it takes about 198 days before treatment can start.

Those who survived after treatment had to live with nasogastric tubes, ventilators, walking aides or were bedridden, Yang said.

Taipei Veterans General Hospital approves the first enzyme treatment within six hours if an infant has low enzymatic activity, decreased muscle tone, creatine kinase levels higher than 250 units per liter and a left ventricular mass index of more than 70g/m2.7, Niu said.

On average, infants at the hospital diagnosed with Pompe disease are receive their initial treatment within 9.75 days, Niu added.

Taiwan listed Pompe disease as a rare disease to test for in 2008 and is the only country in the world that screens for IOPD, Yang said, adding that 36 cases have so far been diagnosed, the oldest of whom is now 13.

Yang said that all cases can walk and eat alone and do not have to use invasive ventilators.

Taipei Veterans General Hospital superintendent Chen Wei-ming (陳威明) said the hospital would continue to foster and support the program.

It is the epitome of advanced medical care as all lives are cherished at the hospital, Chen said.

Health Promotion Administration Director-General Wu Chao-chun (吳昭軍) said that his agency would work with the National Health Insurance Administration to help cover medical costs and assist patients.