Innovative thinking of clinical investigation for rare disease drug development

Wang, P., Chow, SC. Innovative thinking of clinical investigation for rare disease drug development. Orphanet J Rare Dis 18, 299 (2023). doi:10.1186/s13023-023-02909-w 

Many clinical trials for drug development are powered on effectiveness only, and safety issue is considered as the secondary objective. This practice has made some approved drugs have safety concerns, and some are even withdrawn or recalled. One possible reason for researchers not power on safety is that testing for safety requires a much larger sample size. As for orphan drug development, this problem is even worse due to the limited availability of participants.

Periodontal Treatment of Norwegian Patients With Rare Diseases: A Commentary

Øystein Fardal, Irene Skau, Jostein Grytten, Periodontal Treatment of Norwegian Patients With Rare Diseases: A Commentary, International Dental Journal, 2023, doi:10.1016/j.identj.2023.07.009. 

 An autosomal recessive disease that causes neurodegeneration. It results in muscle weakness and loss of sensation and proprioception, causing problems with movement as well as impaired speech. The symptoms tend to worsen as time progresses, so many patients end up in wheelchairs, lose their vision and hearing, and experience other medical complications such as diabetes mellitus and scoliosis. The cause of the disease is a reduction in frataxin, which is necessary for the production of mitochondrial adenosine triphosphate (ATP) and the management of iron stores. No previous connections with periodontal complications have been reported; however, diabetes is a known risk factor. In addition, the inability to perform adequate oral hygiene due to the disability may be an important risk factor.