Alexion Joins EURORDIS, NORD and Patient Organizations Worldwide in Celebrating Rare Disease Day 2013

Thu Feb 28, 2013 12:30am EST

* Reuters is not responsible for the content in this press release.

-- Global Effort to Raise Awareness and Improve Diagnosis and Treatment of Rare
Disorders --
CHESHIRE, Conn.--(Business Wire)--
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

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

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


1. European survey on diagnosis and access to care:

2. US Food and Drug Administration`s Definition of Disease Prevalence for
Therapies Qualifying Under Orphan Drug Act:

THE COUNCIL of 16 December 1999 on orphan medicinal products and from DIRECTIVE
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 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.

7. Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int.

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.

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. SociƩ 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.

Alexion Pharmaceuticals, Inc.:
Irving Adler, 203-271-8210
Executive Director, Corporate Communications
Kim Diamond, 203-439-9600
Director, Corporate Communications 

Copyright Business Wire 2013

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