[Expats & Ailments] Singaporean child with rare disease comes to Shanghai for innovative medicine

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A 6-year-old boy from Singapore was treated at Shanghai's Xinhua Hospital for a rare genetic disease known as achondroplasia (ACH), which causes dwarfism.

This condition results in short stature, small limbs and legs, a large head, and a prominent forehead. Most individuals with achondroplasia have normal intelligence and life expectancy.

Achondroplasia occurs in approximately 1 in every 17,000 to 28,000 newborns. Around 250,000 patients worldwide, including several thousand in China, suffer from this condition.

A mutation in the FGFR3 gene causes the disease. Historically, treatment focused primarily on alleviating symptoms, which included surgeries to correct spinal deformities and the use of breathing machines to improve respiration. However, these treatments did not address the underlying issue of abnormal soft bone development.

In 2021, the first FDA-approved targeted medication to promote linear growth in children with achondroplasia until their growth plates close was introduced in the United States and Europe.

Vosoritide (VOXZOGO®) is the first targeted treatment approved for achondroplasia and is a C-type natriuretic peptide analog developed in the US. It functions by inhibiting FGFR3 signaling, thereby stimulating bone growth and minimizing complications.

Although the medication has not yet received approval in China, it is accessible in select hospitals, including Xinhua, due to a mechanism that allows for temporary applications of urgently needed medicines. Xinhua imported the drug and administered it to one patient earlier this year.

Upon learning about the treatment, the boy's parents traveled to Shanghai.

The hospital subsequently applied for the boy's medication, which arrived within two months.

The parents expressed their gratitude to the hospital and thanked the Chinese government for its efficiency and effective policies.

They noted that if the boy had waited for Singapore to complete the full registration process for the medication, he would have missed the critical intervention phase for his growth. After three months of treatment, the boy's height has increased by 1.5 cm, and physicians have informed the family that the likelihood of additional complications from the condition has significantly decreased.

Xinhua Hospital has become a medical hub for expatriate children with achondroplasia from Southeast Asia. The hospital has established a rare disease center to offer tailored, long-term therapy and management by uniting specialists from various medical departments.