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% 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% of clinical trials and 40% of marketed products are for infectious diseases, according to GlobalData, a leading data and analytics company.

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 centre.”

The Rare Disease Day organization estimates that 72% 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.”

Yu concludes: “There is a drop in rare disease IVD development as highlighted by our four rare disease samples. There are few products in the clinical trial and pipeline phases. This drop could indicate a shift in the market because of new research. With new research, time is required to implement this new data in new devices. Additionally, the drop in rare disease IVD development could be due to a lack of manufacturer interest in rare diseases or too much competition in the markets.

“We have only highlighted four rare diseases, so potentially there may be diseases that show an opposite trend, with many existing products and numerous on the way. Regardless, there needs to be an increased interest in rare diseases as it affects millions of people. There is a lack of diagnostic products which leads to delayed treatment and increased risk of complications.”

*Rare Disease Day brings awareness to the lack of scientific knowledge and quality data on rare diseases which causes delays in diagnosis and treatment