Evolution of therapies for rare and orphan diseases
DOI:
https://doi.org/10.63618/omd/ssjm/v1/n4/40Keywords:
rare diseases, gene therapies, orphan drugs, pharmaceutical regulation, biomedical innovationAbstract
Rare and orphan diseases represent a critical challenge for health systems due to their low prevalence and limited therapeutic options. This study conducted a qualitative and systematized review of recent scientific literature, focusing on therapeutic advances, regulation and clinical barriers in this field. Innovative gene and cell therapies targeting molecular causes, such as onasemnogene abeparvovec for spinal muscular atrophy and voretigene neparvovec for retinal dystrophies, were analyzed, demonstrating significant efficacy. At the regulatory level, laws such as the Orphan Drug Act and European regulations have encouraged the development of orphan drugs through market exclusivity and subsidies, although ethical and economic concerns arise due to high costs and questionable commercial practices. The discussion underscores the need to balance innovation with equitable access and financial sustainability. In conclusion, advanced therapies transform the medical paradigm, but require comprehensive policies to ensure their fair and effective implementation globally.
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Copyright (c) 2023 Herrera-Sánchez, Priscila Jaqueline , Mina-Villalta, Geovanna Yamiley (Autor/a)
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