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

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

  -- Global Effort to Raise Awareness and Improve Diagnosis and Treatment of
                              Rare Disorders --

Business Wire

CHESHIRE, Conn. -- February 28, 2013

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
  *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 population^4 (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.^5,7Sixty-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.^11Complement-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:

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

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. Socié G, Mary JY, de Gramont A, et al. Paroxysmal nocturnal
haemoglobinuria: long-term follow-up and prognostic factors. Lancet. 1996:

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
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