Relief in sight for millions of Chinese with rare diseases

NANJING: China is set to publish its first national list of rare diseases, to guide policymakers as part of a broader overhaul to improve diagnoses and speed up drug approvals in the world’s second-largest drug market.

Rare illnesses, by definition affecting only a small group of people, are often genetic and costly to treat or control.

But they are an increasingly significant segment of the market, and of big pharmaceutical firms’ profits.

Global sales of so-called “orphan” drugs to treat rare diseases are set to increase to US$209bil (RM904bil) in the next five years from US$124bil (RM536bil) this year.

That growth – an important driver for companies like Celgene, Bristol-Myers Squibb, Novartis, Johnson & Johnson and Shire – is double that of the wider pharmaceuticals market, according to consultancy Evaluate.

“China, with the largest population in the world, should also have the largest population of rare diseases,” said Peter Fang, head of Asia Pacific for Shire, which has a focus on rare illnesses and a portfolio of specialist therapies. It sells immunology and haemophilia drugs in China.

In China’s broad but shallow healthcare system, rare illnesses have been largely ignored, leaving patients outside the safety net.

Drugs they need are hard to get hold of or are expensive, with no reimbursement under public insurance policies.

One such medical “orphan” is eight-year-old Hu Yizhuo from the eastern city of Nanjing, who has tuberous sclerosis complex (TSC), a rare genetic disorder that causes benign tumours to grow in the brain and around the body.

To control his symptoms, including frequent seizures, he takes daily doses of Sabril, made by Sanofi SA, and Pfizer Inc’s Rapamune.

But there’s a catch.

The two drugs are not easily available in China, where a focus on cost control and long approval backlogs means many specialist drugs are often out of reach.

Instead, Hu’s parents get the drugs smuggled from Turkey, Taiwan and Hong Kong via agents or from local doctors prescribing them for off-label use.

China’s health ministry declined to comment, though the China Food and Drug Administration said last week the ministry would look to increase support for developing drugs and medical equipment to treat rare diseases.