February 29 is Rare Disease Day in Europe

February 29, 2008 has been announced by EURORDIS (European Organisation for Rare Diseases) and National Alliances as the First European Rare Disease Day with the aim to raise awareness on rare diseases.

Novartis welcomes this important initiative, which focuses public interest on patients suffering from a rare disorder, their families and the challenges they face. The importance of this initiative is underscored at Novartis through the company’s commitment to meet unmet medical needs.

What is a rare disease and who can be affected?

A rare disease is a life-threatening or chronically debilitating condition that affects a small number of people (in Europe defined as less than one citizen in 2000).

• About 80% of rare diseases are of genetic origin and 50% of these diseases manifest themselves in early childhood. Rare diseases affect 3-4% of all children and typically reduce a child’s life span and quality of life significantly. Cystic fibrosis and Duchenne muscular dystrophy are two rare diseases that particularly affect young children.
• The remaining 50% of rare diseases appear in adulthood and are mostly rare tumours, like renal cell carcinoma, glioma and acute myeloid leukaemia, but can also include degenerative diseases, like amyotrophic lateral sclerosis, Huntington disease or familial forms of Alzheimer’s disease.
• Other origins of rare diseases are viral or bacterial infections and allergies.
• 5000 to 8000 distinct rare diseases are estimated to exist in the human population, with 5 new diseases being described every week.
• While being individually uncommon, the large number of rare diseases results in a patient population of 27 - 36 million people in the European Union alone.

Why a European Rare Disease Day?

• Despite the extremely low prevalence of rare diseases, they have a profound impact on the life of the patients and their families. Rare disease patients generally face more difficulties than other patients.
• Knowledge about these diseases is limited, even among the medical community. In most cases it takes years to be properly diagnosed with a rare disease and few treatments, if any, exist.
• Appropriate medication, treatment centers and support networks are often non-existent or difficult to find, which places the biggest social and economic burden of rare diseases on caregivers, who are typically relatives. Often, patients and their families feel isolated, neglected and misunderstood.

• Development of an orphan drug is particularly challenging for a company. Very few and geographically dispersed patients exist to undertake clinical studies in order to demonstrate clinical efficacy and safety. In addition, due to the small number of patients, it is less likely for a company to recover the capital invested in the research and development of an orphan drug than for a drug that treats a more common disease.


A drug that is developed to treat a rare disease is called an “orphan drug”.

• Special legislation has been introduced in both the US (Orphan Drug Act in 1983) and the EU (Regulations EC 141/2000 and EC 847/2000 on Orphan Medicinal Products in 2000) to support and stimulate the development of treatments for rare diseases by providing incentives to the companies. Since the original enforcement of the Orphan Drug Act 25 years ago, more than 1 100 treatments for rare diseases have entered the research pipeline, and more than 300 products have been approved by the FDA. For comparison, in the decade before the Orphan Drug Act was passed, only 10 treatments for rare diseases had been developed by the pharmaceutical industry. In the EU, there are currently about 500 treatments developed for rare diseases. Orphan products addressing 37 different indications were granted marketing authorization since the Orphan Medicines Legislation was enacted in 2000.
• Despite the positive impact of orphan drug legislation on treatment development for rare diseases, most of the rare diseases currently identified are not or insufficiently treatable. Small biotech companies predominantly accept the challenge of finding and developing treatments for rare diseases.
• EURORDIS and National Alliances have announced the “rare day” of February 29, 2008 as the First European Rare Disease Day to raise awareness on rare diseases in the public. 2008 is also the year of the 25th anniversary of the Orphan Drug Act in the United States.

What is Novartis doing to meet unmet medical needs?

Novartis is committed to developing innovative treatments for diseases with no or limited treatment options, including rare and neglected diseases.

At the Novartis Institutes for BioMedical Research (NIBR) scientists’ research efforts address disease areas where there is both unmet medical need and a clear understanding of underlying disease mechanisms, regardless of market size. Therefore, drug discovery efforts at NIBR often focus on genetically well-defined diseases which in many cases are rare.

In addition, insights gained in patients with rare diseases will also be applied to patients with more common diseases who share the same disease mechanism, so that additional patients can benefit from the same medicine. One example of this is the monoclonal antibody to human IL-1beta which is currently being developed for the rare Muckle-Wells syndrome. It has also been learned that the drug holds promise as a potential treatment for the more common disease, rheumatoid arthritis. As a result, the antibody is being developed to treat that disease as well.

Promising candidate drugs are being developed in all Novartis divisions. It takes dedicated and hard work to transform a promising candidate drug into a treatment reality that benefits patients.

The value of a drug treatment for patients does not lie solely in its active substance, but as well in its formulation and administration route. Such significant progress could for example be achieved in the management of the rare genetic disease thalassemia. This disorder leads to chronic iron overload of the blood, which previously could be treated only with an infusion, delivered over a period of up to 12 hours via a pump. This was specifically burdensome for children. Thanks to improved formulation the therapy can today be taken once daily as a drink.

To see the Novartis activities in the area of neglected diseases, visit the Novartis Institute for Tropical Diseases (NITD) and the newly established Novartis Vaccines Institute for Global Health (NVGH) sites. NVGH exclusively focuses on vaccines for diseases of the developing world.

Read for more information:

1. EURORDIS (European Organisation for Rare Diseases) Webpage dedicated to the European Rare Disease Day http://www.rarediseaseday.org/
2. Document of the European Medicines Agency on “Orphan Drugs and Rare Diseases at a Glance”
3. The Orphanet database provides information on rare disease and orphan drugs: http://www.orpha.net/
4. http://www.rarediseases.org/ is the webpage of the National Organization for Rare Disorders (NORD) in the United States
5. US legislation on orphan drugs: Orphan Drug Act (1983)
6. EU legislation on orphan medicinal products (2000): Regulation EC 141/2000 and Regulation EC 847/2000
7. Novartis Institute for Tropical Diseases (NITD)
8. Novartis Institutes for BioMedical Research (NIBR)
9. Novartis Vaccines Institute for Global Health (NVGH)

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