Rare Disease Day: why China’s rare disease burden could be an opportunity for innovation

Name: Chinese father makes own medicine in desperate bid to treat son’s fatal genetic disease
Uploaded: 2023-02-28T00:00:11.000Z
Duration: 5 min 9 s
Description: Chinese father makes own medicine in desperate bid to treat son’s fatal genetic disease

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

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The global market for orphan drugs is expected to reach US$110 billion by 2025, with China’s domestic market reaching around 30 billion yuan (US$4.3 billion). Photo: Xinhua

Salina Li

Published: 8:00am, 28 Feb 2023Updated: 9:17am, 28 Feb 2023

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.

Xu’s extraordinary story shows just how difficult it is for people with rare diseases to access treatment in China, with Tuesday marking Rare Disease Day.

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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.

“Even if the orphan drug is developed, if no patient can afford to use it, then it’s meaningless,” said Xu.

There are as many as 7,000 types of rare diseases affecting around 350 million people worldwide, according to Global Genes, a non-profit organisation for individuals and families fighting rare and genetic diseases.