李若涵, 都丽萍, 接恒博, 梅丹. 探索高浓度羟钴胺制剂在甲基丙二酸血症的可及性[J]. 罕见病研究, 2023, 2(3): 406-413. DOI: 10.12376/j.issn.2097-0501.2023.03.011
引用本文: 李若涵, 都丽萍, 接恒博, 梅丹. 探索高浓度羟钴胺制剂在甲基丙二酸血症的可及性[J]. 罕见病研究, 2023, 2(3): 406-413. DOI: 10.12376/j.issn.2097-0501.2023.03.011
LI Ruohan, DU Liping, JIE Hengbo, MEI Dan. Exploring the Accessibility by Using the Hydroxycobalamin Preparations of High Concentration in Treating Methylmalonic Acidemia[J]. Journal of Rare Diseases, 2023, 2(3): 406-413. DOI: 10.12376/j.issn.2097-0501.2023.03.011
Citation: LI Ruohan, DU Liping, JIE Hengbo, MEI Dan. Exploring the Accessibility by Using the Hydroxycobalamin Preparations of High Concentration in Treating Methylmalonic Acidemia[J]. Journal of Rare Diseases, 2023, 2(3): 406-413. DOI: 10.12376/j.issn.2097-0501.2023.03.011

探索高浓度羟钴胺制剂在甲基丙二酸血症的可及性

Exploring the Accessibility by Using the Hydroxycobalamin Preparations of High Concentration in Treating Methylmalonic Acidemia

  • 摘要: 甲基丙二酸血症(MMA)是中国有机酸代谢病较常见的疾病之一,需长期使用维生素B12进行治疗。用于治疗的维生素B12形式多样,目前中国境内现有的甲钴胺、腺苷钴胺无法达到MMA患儿的治疗需求。肌内注射高浓度羟钴胺治疗MMA相比其他维生素B12具有显著优势,但目前中国高浓度羟钴胺制剂的可及性较差,因此,急需研发、引进或自主配制高浓度的羟钴胺,以满足国内大量MMA患者的鉴别诊断和治疗需求。通过对现有羟钴胺制剂的监测和调整,可探索出适宜的用药方案,同时考虑开发口服羟钴胺制剂作为补充治疗。解决羟钴胺制剂相关问题有助于满足MMA患者的治疗需求,也为罕见病用药路径的探索提供了新的可能性。优化相关政策和监管措施,可促进羟钴胺制剂的研发、引进和生产,提高患者获得适当治疗的机会。

     

    Abstract: Methylmalonic acidemia(MMA) is one of the common diseases in hereditary organic acid metabolism disorder. The disorder is mainly treated by using vitamin B12 which comes in various forms.The use of the methylcobalamin and adenosylcobalamin in China cannot meet the needs of children with MMA. Parenteral use of hydroxocobalamin of high concentration has significant advantages in the treatment of MMA. But, the accessibility to hydroxocobalamin is challenging now.Through the supervision and adjustment of hydroxocobalamin, we explored the strategy of using the drugs. Meanwhile, we are considering the oral use of the hydroxocobalamin as supplement to treatment. Solving the challenges of the hydrococobalamin is helpful to meet the treatment of MMA and to provide a new possibility for the use of medication for rare diseases. The improvement in policy and supervision measures will facilitate the development, involvement, and production of hydroxocobalamin, so that the patients will have a good chance of access to the treatment.

     

/

返回文章
返回