Seminar highlights treatments of rare diseases

There are more than 70 medicines for rare diseases available on the Chinese market, and a system for speeding up their approval has been introduced, experts told a medical seminar launched by Shanghai Foundation for Rare Disease in the city on Saturday.

There are about 7,000 rare diseases worldwide. 

About 80 percent are inherited, affecting some 350 million people in the world. About half of rare disease sufferers are children. About 30 percent of children with rare disease die before the age of 5. Rare diseases are responsible for 35 percent of death of infants younger than one year old, experts said.

A new medicine has been approved for urea cycle disorders, or UCD, hereditary metabolic disorders caused by a deficiency of one of the enzymes in the urea cycle responsible for removing ammonia from the bloodstream.

Experts discussed the diagnosis, treatment and prevention of the rare disease on the seminar.

UCD comprises eight disorders, which is a substantial cause of brain damage and death among newborns and infants.

The disease hasn't been widely recognized in China and there is no epidemiological research on UCO in the nation. The incidence in the West is one among every 35,000 newborn babies, said Dr Yang Yanling from Peking University First Hospital.

With the first medicine treating UCO being approved in the nation, patients have hope for long-term treatment and improvement of life quality.

Medical experts from both are calling for the quicker introduction and development of medicines for treating rare diseases, and better medical insurance coverage as well as government and social support to help patients cover medical expenses.