"Trapped by the lack of medication coverage, most patients with Pompe disease in China are forced to face the situation of 'having the medicine but unable to afford it'. Even though there are medications available on the market domestically, we can only watch ourselves deteriorate after onset, gradually losing the ability to walk, then becoming reliant on wheelchairs and ventilators, ultimately losing our lives. We urgently hope that the relevant authorities can hear our voices, allowing us timely access to life-saving drugs so that we can live, work, and contribute to society like normal people," said Guo Penghe, head of the Pompe Rare Disease Care Center, as the 17th International Rare Disease Day approaches.
Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare lysosomal storage disorder, classified as an "ultra-rare disease" due to its extremely low prevalence. It is caused by mutations in the gene encoding acid alpha-glucosidase (GAA) located at 17q25.3, leading to a deficiency or significant reduction in the enzymatic activity of GAA within lysosomes. This results in the accumulation of glycogen within lysosomes of cells such as skeletal muscle, cardiac muscle, and smooth muscle, leading to lysosomal swelling, cell destruction, organ dysfunction, and a series of clinical manifestations.
Although effective medications for treating Pompe disease were approved and marketed domestically seven years ago, to this day, due to not being included in the national basic medical insurance and lacking other effective supplementary safeguard policies, patients with Pompe disease still struggle to receive continuous and standardized treatment.
Similar issues exist with mucopolysaccharidosis (MPS), another group of rare lysosomal storage disorders (LSDs), also classified as "ultra-rare diseases". Due to defects in enzymes that degrade mucopolysaccharides, incompletely degraded mucopolysaccharides continuously accumulate in patients' bodies, leading to a series of dangerous symptoms such as central nervous system involvement, skeletal deformities, and cardiac abnormalities.
"At present, innovative and effective drugs for treating MPS that are marketed domestically have not been included in any of China's safeguard systems. This lack of inclusion has caused investors to lack confidence in the market prospects for these drugs in China. The drug for treating MPS IV A type will be withdrawn from China in May this year, adding insult to injury for us patients who already face difficulty accessing medication," said Zheng Yu, head of the Zhengyu Mucopolysaccharide Rare Disease Care Center. For ultra-rare diseases like MPS, where the number of patients requiring treatment is small and drug prices are high, the problem should not rely solely on expecting pharmaceutical companies to reduce prices. Instead, establishing a national special assistance fund or providing policy incentives for research and development organizations and manufacturing companies could be explored to encourage drug development and production.
In recent years, many regions have begun exploring local diversification of safeguard systems for rare diseases, attempting to address the issue of medication accessibility for rare disease patients, especially those with ultra-rare diseases.
"Whether it's the 'Jiangsu-Zhejiang model' or the 'Shanghai-Guangzhou model', both have made beneficial explorations in solving the challenge of medication accessibility for high-value rare diseases through innovative and multi-level safeguard models. From the current perspective, these models have benefited and stabilized patients, positively influencing the exploration and innovation of rare disease safeguard mechanisms. In the long run, we can learn from these experiences and explore the establishment of a national rare disease special fund at the national level, centrally coordinated by the state and dedicated to filling the gaps in rare disease safeguard, making medication accessible to patients," said Professor Sun Jie, a member of the National Committee of the Chinese People's Political Consultative Conference and a researcher at the Institute of National Open Economy at the University of International Business and Economics.
Chen Wei, a National People's Congress deputy and deputy director of the Traditional Chinese Medicine Hospital in Quzhou, also suggested addressing the high cost burden of medications for rare disease patients by establishing a central "Rare Disease Charity Medical Assistance Special Fund." "The special fund can be tailored to the long treatment cycles and heavy economic burdens of rare diseases, providing stable funding sources and clear subsidy criteria to support specific patient populations in need of safeguard, ensuring that truly deserving patients receive long-term and stable assistance."
