Fabrazyme Expands Indication to Include Patients Aged 2–6 with Fabry Disease, Filling Critical Treatment Gap in China

Xinhua News Agency, Beijing (Reporter Zhang Xiulan) — On December 8, the National Medical Products Administration approved agalsidase beta for injection (brand name Fabrazyme) for enzyme replacement therapy (ERT) in Fabry disease patients aged 2 years and above. This means that Fabrazyme has become the first and only ERT drug approved in China for the treatment of Fabry disease in patients aged 2 years and above, filling the gap in treatment for Fabry disease patients aged 2-6 in China.

Fabry disease is a rare X-linked inherited lysosomal storage disorder. Mutations in the GLA gene lead to reduced or complete absence of α-galactosidase A (α-Gal A) activity, causing its metabolic substrates, globotriaosylceramide (GL-3), and its derivative, deacetylated globotriaosylsphingosine (Lyso-GL-3), to accumulate extensively in organs such as the kidneys, heart, and nervous system, resulting in multi-organ damage. Currently, the number of diagnosed patients in China is only in the hundreds, meaning the diagnosis rate is less than one in a million. Compared with rare diseases that have thousands of diagnosed and treated cases, Fabry disease is a typical "ultra-rare disease." The clinical manifestations of Fabry disease are diverse and non-specific, often leading to significant delays in diagnosis. Data shows that, on average, Fabry disease patients experience a 14-year delay from symptom onset to diagnosis, with some cases taking 20 to 50 years for a confirmed diagnosis.

As early as December 2019, China's National Medical Products Administration approved Fabrazyme (Agalsidase Beta for Injection) for long-term enzyme replacement therapy in patients diagnosed with Fabry disease (α-Galactosidase A deficiency), applicable to adults, children, and adolescents aged 8 years and above. In August 2020, another Fabry disease drug—Replagal (Agalsidase Alfa Injection Concentrate) from Takeda China—was approved by the National Medical Products Administration for long-term enzyme replacement therapy in patients diagnosed with Fabry disease.

Proofread by Xu Li Yang