Our Focus

Rare Disease Therapeutics

Our structure-guided drug design process leads us to the discovery and development of novel small-molecule oral drugs that target rare diseases.

We focus on therapeutic areas with either no available treatments or large unmet patient needs that BioCryst can fill. Our most advanced program is in hereditary angioedema.

Hereditary angioedema
Hereditary angioedema (HAE) is a potentially life-threatening disease caused by a genetic deficiency of a protein called C1 esterase inhibitor (C1-INH). C1-INH plays an important role in limiting the formation of bradykinin and preventing the bradykinin-forming system from becoming hyperactive and mediating swelling in HAE. HAE is a rare condition, affecting between approximately 1 in 10,000 to 1 in 50,000 people.1 Left untreated, patients with HAE often have multiple attacks every month, and the swelling from each attack can last for 2 to 4 days.2

Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) is a rare, progressive genetic disorder that has an estimated prevalence of between 0.5 to 0.88 persons per million in North America.3,4 FOP can be diagnosed at birth based on malformation of the big toes, but is commonly misdiagnosed, which exposes patients to unnecessary and inappropriate therapies and procedures.5 Over time it creates a second skeleton that makes movement in affected areas difficult or impossible.

Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, disabling, and life-threatening disease affecting 1 to 1.5 persons per million worldwide.6 In PNH, uncontrolled complement activity and consequent red blood cell destruction (hemolysis) leads to chronic hemolytic anemia, thrombophilia, and bone marrow failure.7 Individuals with PNH are at increased risk of thrombotic events, which occurs in up to 30% of patients (in Western countries) during the disease course and is the main cause of mortality.6 The impact of PNH is both physical and psychological, reducing quality of life and activities of daily living.

1 Bernstein JA. HAE update: epidemiology and burden of disease. Allergy Asthma Proc. 2013;34(1):3-6.
2 Bernstein JA. Severity of hereditary angioedema, prevalence, and diagnostic considerations. Am J Manag Care. 2018;24:S292-S298.
3 Pignolo RJ, Hsiao EC, Baujat G, et al. Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization. Orphanet J Rare Dis. 2021;16:350.
4 Liljesthrom M, Pignolo RJ, Kaplan FS. Epidemiology of the global fibrodysplasia ossificans progressiva (FOP) community. J Rare Dis Res Treat. 2020;5(2):31-36.
5 Sherman LA, Cheung K, De Cunto C, et al. The diagnostic journey in fibrodysplasia ossificans progressiva: insights from the FOP registry. Presented at: ASBMR 2020 Virtual Annual Meeting, September 11–15, 2020.
6 Hill A, DeZern AE, Kinoshita T, Brodsky RA. Paroxysmal nocturnal haemoglobinuria. Nat Rev Dis Primers. 2017;3:17028. doi:10.1038/nrdp.2017.28.
7 Parker CJ. Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria. Hematology Am Soc Hematol Educ Program. 2016; (1): 208–216.

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