Rare Disease Day: why China’s rare disease burden could be an opportunity for innovation
- China has around 20 million people who suffer from rare diseases, the treatment of which are usually prohibitively expensive
- Medical experts say clear insurance guidelines and government policy could help boost investment in innovative treatments
When Xu Wei’s son Haoyang was diagnosed with Menkes Disease, a rare genetic condition that affects how copper is processed in the body, he was told the boy might not live beyond three years old.
The disease, which affects brain and nervous system development, usually results in death – and there is no treatment available in China.
But Haoyang has beaten the odds so far, thanks to his father’s ingenuity. Determined to save his life, Xu – who only has a secondary school education – built a home laboratory and began producing medicine that helps replenish some of the copper missing from his body. Haoyang is now four years old and taking part in a first-of-its-kind experimental gene therapy.
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Chinese father makes own medicine in desperate bid to treat son’s fatal genetic disease
Production of so-called orphan drugs, which are developed to combat rare diseases, is so costly that many pharmaceutical companies are unwilling to invest in research and development (R&D) because of the lack of financial return. If new drugs do hit the shelves, they are exorbitantly expensive.