Alexion Pharmaceuticals, Inc. (Nasdaq: ALXN), joins the European Organization for Rare Diseases (EURORDIS), the National Organization for Rare Disorders (NORD) and patient organizations worldwide in celebrating Rare Disease Day 2013, a global effort to focus attention on rare diseases, their profound impact on patients, and the need for improved diagnosis and treatment. The theme of this year´s celebration, "Rare Disorders without Borders," aligns with Alexion´s mission of developing and delivering life-transforming therapies for patients worldwide who suffer from severe, life-threatening diseases that are ultra-rare.
"On Rare Disease Day, we are breaking isolation and raising awareness. Patients worldwide are not alone. We urge all stakeholders to reach across borders and find common solutions to living with serious, chronic and life-threatening rare diseases," said Yann Le Cam, Chief Executive Officer, EURORDIS. "Working together we can promote rare diseases as a public health priority, so to improve patients´ access to diagnosis and treatment."
Many rare and ultra-rare diseases are chronic, progressive and marked by continuing pain, severe disability and high mortality rates. Diagnosing and managing these rare diseases is often made difficult by a lack of scientific knowledge, research and medical innovation. Few physicians are familiar with diagnosing and treating these illnesses, which frequently leads to missed, delayed or inaccurate diagnoses.1 Because of this, it is important to educate the medical community through disease awareness programs and diagnostic initiatives to identify patients suffering from rare and ultra-rare diseases as early as possible.
"Like many patients coping with a rare or ultra-rare disease, it took several months for our daughter to get an accurate diagnosis," said Denise Schmidt, mother of a young adult diagnosed with atypical hemolytic uremic syndrome (aHUS), a chronic, ultra-rare and life-threatening disease that can progressively damage vital organs. "Increasing awareness among physicians and patients is a vital first step to ensuring our loved ones receive the best treatment and care."
"We understand that every day is Rare Disease Day for patients and families who suffer from severe and life-threatening ultra-rare disorders and often live without hope because an effective treatment option is not available," said Leonard Bell, M.D., Chief Executive Officer of Alexion. "The employees of Alexion are committed to developing and delivering therapies that can transform the lives of these patients. We now serve patients in 50 countries by focusing on disease education to help patients with paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS) receive an accurate diagnosis and appropriate treatment. At the same time, we continue to invest in research and development with the goal of providing highly innovative therapies to patients with additional severe and life-threatening disorders, which also happen to be extremely rare."
Bringing Hope Across the Globe
Alexion is aiming to develop highly innovative treatments for severe and life-threatening ultra-rare disorders. The company´s development programs are solely focused on:
- Severe disorders with devastating and life-threatening medical consequences
- Disorders with ineffective, or no treatment options
- Disorders that are ultra-rare and affect very small numbers of patients
To learn more about Rare Disease Day, visit www.rarediseaseday.org
About Rare and Ultra-Rare Disorders
In the United States, a disease is defined as rare if it affects fewer than 650 patients per million of population.2. The European Union definition of a rare disease is one that affects fewer than five patients per 10,000 of population.3 In contrast, a disease is generally considered to be ultra-rare if it affects fewer than 20 patients per million of population4 (one patient per 50,000) "´and most ultra-rare diseases affect far fewer people than this.
Despite the very small numbers of patients they affect, the impact of rare and ultra-rare diseases on patients, their families, and society is profound, as many are severe, chronic and progressive, with high mortality rates. Patients with severe and life-threatening ultra-rare diseases often live without hope, have no effective treatment options and may face premature death.
About aHUS
aHUS is a chronic, ultra-rare, and life-threatening disease in which a genetic deficiency in one or more complement regulatory genes causes chronic uncontrolled complement activation, resulting in complement-mediated thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body.5,6 Permanent, uncontrolled complement activation in aHUS causes a life-long risk for TMA, which leads to sudden, catastrophic, and life-threatening damage to the kidney, brain, heart, and other vital organs, and premature death.5,7 Sixty-five percent of all patients with aHUS require kidney dialysis, have permanent kidney damage or die within the first year after diagnosis despite plasma exchange or plasma infusion (PE/PI).8,9 The majority of patients with aHUS who receive a kidney transplant commonly experience subsequent systemic TMA, resulting in a 90% transplant failure rate in these TMA patients.10
aHUS affects both children and adults.11 Complement-mediated TMA also causes reduction in platelet count (thrombocytopenia) and red blood cell destruction (hemolysis). While mutations have been identified in at least ten different complement regulatory genes, mutations are not identified in 30-50% of patients with a confirmed diagnosis of aHUS.11
About PNH
PNH is an ultra-rare blood disorder in which chronic, uncontrolled activation of complement, a component of the normal immune system, results in hemolysis (destruction of the patient´s red blood cells). PNH strikes people of all ages, with an average age of onset in the early 30s.12 Approximately 10% of all patients first develop symptoms at 21 years of age or younger.13 PNH develops without warning and can occur in men and women of all races, backgrounds and ages. PNH often goes unrecognized, with delays in diagnosis ranging from one to more than 10 years.14 Prior to 2007, it had been estimated that approximately one-third of patients with PNH did not survive more than five years from the time of diagnosis.12 PNH has been identified more commonly among patients with disorders of the bone marrow, including aplastic anemia (AA) and myelodysplastic syndromes (MDS).15-17 In patients with thrombosis of unknown origin, PNH may be an underlying cause.12
References
1. European survey on diagnosis and access to care: http://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf
2. US Food and Drug Administration´s Definition of Disease Prevalence for Therapies Qualifying Under Orphan Drug Act: http://tinyurl.com/c6kpq22
3. Definition from REGULATION (EC) No 141/2000 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 16 December 1999 on orphan medicinal products and from DIRECTIVE 2011/24/EU OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 9 March 2011 on the application of patients´ rights in cross-border healthcare
4. Definition from the UK National Institute for Clinical Effectiveness (NICE). 2004. Citizen Council Report on Ultra-Orphan Drugs. Available at http://tinyurl.com/b3qurp3 and as defined in the following documents: Wales Medicines Strategy Group (AWMSG); Recommendations for a Belgian Plan for Rare Diseases; the EMINET Report commissioned by the European Commission´s Directorate General Enterprise and Industry, the European Union Committee of Experts on Rare Diseases´ (EUCERD)
5. Benz K, Amann K. Thrombotic microangiopathy: new insights. Curr Opin Nephrol Hypertens. 2010;19(3):242-7.
6. Ariceta G, Besbas N, Johnson S, et al. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol. 2009;24:687-96.
7. Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70(1):16-23.
8. Caprioli J, Noris M, Brioschi S, et al. The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006;108:1267-1269.
9. Loirat C, Garnier A, Sellier-Leclerc AL, Kwon T. Plasmatherapy in atypical hemolytic uremic syndrome. Semin Thromb Hemost. 2010;36:673-81.
10. Bresin E, Daina E, Noris M, et al. Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: prognostic significance of genetic background. Clin J Am Soc Nephrol. 2006;1:88-99.
11. Noris M, Caprioli J, Bresin E, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5:1844-1859.
12. Socié G, Mary JY, de Gramont A, et al. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet. 1996: 348:573-577.
13. Parker C, Omine M, Richards S, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106(12):3699-3709.
14. Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333:1253-1258.
15. Wang H, Chuhjo T, Yasue S, Omine M, Naka S. Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Blood. 2002;100 (12):3897-3902.
16. Iwanga M, Furukawa K, Amenomori T, et al. Paroxysmal nocturnal haemoglobinuria clones in patients with myelodysplastic syndromes. Br J Haematol. 1998;102(2):465-474.
17. Maciejewski JP, Rivera C, Kook H, Dunn D, Young NS. Relationship between bone marrow failure syndromes and the presence of glycophosphatidyl inositol-anchored protein-deficient clones. Br J Haematol. 2001;115:1015-1022.
