Research advances in pharmacotherapy for rare diseases in children

doi:10.7499/j.issn.1008-8830.2302048

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Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (7) : 759-766. DOI: 10.7499/j.issn.1008-8830.2302048

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Research advances in pharmacotherapy for rare diseases in children

LI Jia-Qi, WANG Hui-Jun

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Abstract

There are more than 7 000 rare diseases and approximately 475 million individuals with rare diseases globally, with children accounting for two-thirds of this population. Due to a relatively small patient population and limited financial resources allocated for drug research and development in pharmaceutical enterprises, there are still no drugs approved for the treatment of several thousands of these rare diseases. At present, there are no drugs for 95% of the patients with rare diseases, and consequently, the therapeutic drugs for rare diseases have been designated as orphan drugs. In order to guide pharmaceutical enterprises to strengthen the research and development of orphan drugs, various nations have enacted the acts for rare disease drugs, promoted and simplified the patent application process for orphan drugs, and provided scientific recommendations and guidance for the research and development of orphan drugs. Since there is a relatively high incidence rate of rare diseases in children, this article reviews the latest research on pharmacotherapy for children with rare diseases.

Key words

Rare disease / Orphan drug production / Enzyme replacement therapy / Small-molecule drug / Gene therapy / Child

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LI Jia-Qi, WANG Hui-Jun. Research advances in pharmacotherapy for rare diseases in children[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(7): 759-766 https://doi.org/10.7499/j.issn.1008-8830.2302048

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