Only Cystic Fibrosis has two active clinical trials for IVD products out of over 1,400 active IVD trials
Rare Disease Day, observed on 28 February, highlights the lack of in vitro diagnostic (IVD) tests and therapies for 7,000 diseases affecting 3.5-5.9 per cent of the population worldwide, according to the Rare Disease Day organization. These diseases include Cystic Fibrosis, Turner Syndrome, Gaucher Disease, and Spinal Muscular Atrophy.
Of the four diseases, only Cystic Fibrosis has two active clinical trials for IVD products out of over 1,400 active IVD trials. And combined 110 marketed products out of almost 16,000 IVD devices. Comparatively, 27 per cent of clinical trials and 40 per cent of marketed products are for infectious diseases, according to GlobalData.
Selena Yu, Medical Analyst at GlobalData, comments: “Rare Disease Day emphasizes the need for more research to better understand these diseases to help advance diagnostic and treatment options. Although these diseases affect over 300 million people worldwide there is limited funding and interest in this disease area shown in their limited IVD products. For example, there are 11 IVD tests for Cystic Fibrosis in the pipeline out of 5,708 products. Importantly, 2,163 are for infectious diseases and 1,810 are for cancers, according to GlobalData’s Pipeline, Marketed Products, and Clinical Trials databases on the Medical Intelligence center.”
The Rare Disease Day organization estimates that 72 per cent of rare diseases are genetic diseases. With the rise in next-generation sequencing-based testing in cancer IVD tests, a shift in using these existing technologies and building databases for rare diseases is expected to take place.
Yu adds: “Given that not all genetic disorders are rare diseases and not all rare diseases are genetic disorders, the trend is still clear that there is a lack of product development in the rare diseases field. The 6,326 marketed products for IVD tests for infectious diseases overshadow the 517 for genetic disorders.”