Orphan Drugs: The Challenge for Rare Diseases
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Abstract
Despite significant advances in understanding the etiology of many rare diseases (RDs), these scientific breakthroughs have not always translated into direct benefits for patients. Rare diseases (also known as orphan diseases) are officially defined in the U.S. as those affecting fewer than 200,000 people in the country. It is estimated that there are approximately 7,000 rare diseases; however, only between 250 and 300 have FDA-approved treatments.
One of the greatest challenges in the development of drugs for rare diseases is the difficulty of conducting clinical trials in small populations. Translational science, which serves as the foundation for the rational development of treatments, has progressed at a slower pace compared to basic scientific innovation. This has created a gap between
laboratory discoveries and their application in clinical practice, limiting the availability of effective therapies.
To achieve a real impact on patients’ lives, it is crucial to strengthen research on rare diseases through translational science, which transforms basic knowledge into practical,
multidisciplinary applications. In this context, designing innovative clinical trial strategies, optimizing biomarker identification, and fostering collaboration among various scientific and medical sectors becomes essential. Only
through these efforts it will be possible to overcome existing barriers and accelerate the development of effective treatments for these rare conditions.
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Derechos de autor: Actualizaciones en Osteología es la revista oficial de la Asociación Argentina de Osteología y Metabolismo Mineral (AAOMM) que posee los derechos de autor de todo el material publicado en dicha revista.
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