NT$100 million NHI coverage for rare disease sparks debate

Taipei, Dec. 3 (CNA) Taiwan's National Health Insurance Administration (NHIA) has decided to cover an expensive but effective gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency, sparking debate over fairness and treatment access for patients with other rare conditions.

The one-time therapy, which costs about NT$100 million (US$3.28 million) per injection, will be covered on a temporary basis, the NHIA said Tuesday. Its effectiveness will be reassessed three years after treatment begins, and coverage terms may be adjusted as needed.

AADC deficiency affects infants and young children, causing severe developmental delays and autonomic dysfunction. Without treatment, many patients die between the ages of 2 and 5. The therapy, however, can significantly improve motor function and quality of life.

The treatment was developed by National Taiwan University Hospital (NTUH) in 2007, with clinical protocols established in 2010, before being licensed to a U.S. company.

NHIA estimates 13 patients will receive the therapy in its first year at a cost of about NT$1.3 billion. From the second through fifth years, five additional patients are expected to be treated annually, costing roughly NT$500 million per year.

The decision has sparked criticism from physicians, including pulmonologist Su Yi-feng (蘇一峰), who noted that drugs for other rare diseases - such as lymphangioleiomyomatosis (LAM or "bubble lung") - treat dozens of patients for less than NT$100 million, yet are not fully covered.

Supporters counter that the AADC therapy offers life-saving benefits and meaningful developmental gains. Integrative medicine specialist Chiang Kuan-yu (姜冠宇) said the investment could help position Taiwan as a key site for Asian genetic data, supporting future research collaborations and negotiations with international pharmaceutical companies.

NTUH Department of Medical Genetics Director Chien Yin-hsiu (簡穎秀) defended the technology transfer to the U.S., saying few believed in the feasibility of AADC gene therapy two decades ago.

There had been no effective treatment for AADC deficiency in the past, and affected children could only lie immobile in bed with no motor development, Chien said.

Among the 31 patients who received the new therapy in a trial, however, 80 percent were able to sit up, and among those treated early with intensive rehabilitation, 40 percent were able to walk independently, she said.

"Just being able to sit up instead of only lying down makes an enormous difference," she said. "For parents providing daily care, the improvement is like night and day."

Regarding LAM coverage, NHIA Director-General Chen Lian-yu (陳亮妤) said the disease is not currently classified as rare, though applications have been submitted. Coverage will follow once the ministry completes its review, she said.

LAM drugs have been covered under NHI since 2001, with 26 patients reported last year. NHIA said it will assist families facing difficulties in the application process.