In this PepTalk, we are visiting another “Rare Disease”. Such diseases have an incidence rate affecting less than 200,000 people as established by the Congress of the United States with the Orphan Drug Act of 1983.1 Legislation created the definition, and also instrumental in changing the entire discussion and economy around orphan drug research in the US. In the ten years prior to its implementation, less than ten treatments were approved. Since1983, the Office of Orphan Products Development (OOPD incentivizes research on what were previously untenable developmental costs, bringing more than 400 new treatments to market.1
According to the NIH there are as many as 7,000 rare diseases. The National Center for Advancing Translational Sciences (NCATS) studies found commonalities among populations and diseases through collaborative studies.1 From those, the following programs for rare diseases have been made available:
- Rare Diseases Clinical Research Network (RDCRN)
- Therapeutics for Rare and Neglected Diseases (TRND)
- Rare Diseases Registry Program (RaDaR)
- Genetic and Rare Diseases Information Center (GARD)
Of course, the designations and prevalence of rare, and in fact, all diseases may change over time.
Originally described by Japanese pediatrician Dr. Tomisaku Kawasaki in 1967,1 the eponymously named disease, also known as Kawasaki Syndrome, is making headlines worldwide with similar features present in some children that were asymptomatic or displayed only mild COVID-19 symptoms. Within nine years of Kawasaki’s recognition, it was then identified in the United States, in Hawaii.2 It is a febrile illness, usually found in children under five, and along with fevers, other manifestations are: rashes, swelling of the hands and feet, irritation and redness of the whites of the eyes, swollen lymph glands in the neck (lymphadenopathy), and irritation and inflammation of the mouth, lips, and throat (stomatitis).3
The incidence rate is believed to be somewhere between nine and nineteen cases per 100,000 each year in the continental US.3 Since reporting of KD is generally by passive surveillance,4 exact numbers, as in most of these situations, are difficult to assess. With that in mind, in 2000, approximately 4248 hospitalizations with KD were reported among children under 18 in the US, of which 3277 (77%) were for children under 5 years of age.3
Since the SARS-CoV-2 pandemic and these occurrences of KD are so recent, obviously there is much more to learn in regards to each individually and its causation of the latter.
For more facts and support on KD generally, along with information in relation to COVID-19, please check out the resources. Related products, news, and more information can be found at the New England Peptide | Peptides International COVID-19 Information Station. For an investigation of the impact that the COVID-19 pandemic is having on rare disease research, please see the article here.
- T. Kawasaki, F. Kosaki, S. Okawa S, Shigematsu, H. Yanagawa, A New Infantile Acute Febrile Mucocutaneous Lymph Node Syndrome (MLNS) Prevailing in Japan; Pediatrics, 54(3), 271 (1974).
- M.E. Melish, R.M. Hicks, E.J. Larson, Am J Dis Child, 130, 599 (1976).
- https://www.cdc.gov/kawasaki/about.html and https://www.cdc.gov/kawasaki/index.html
- Statement to the Media following the 2 May Pediatric Intensive Care-COVID-19 International Collaborative Conference Call
- COVID-19 and Kawasaki Disease: Novel Virus and Novel Case (PDF, Preprint)
- S. Singh and A.K. Jindal, Fifty Years of Kawasaki Disease–a Tribute to Dr Tomisaku Kawasaki; Indian Pediatr 54, 10371039 (2017). https://doi.org/10.1007/s13312-017-1208