Saving Rare Diseases from Orphanage


On the occasion of the “Rare Disease Day,” observed around the world every year on the last day of February to draw attention to rare diseases, the Association of Research-Based Pharmaceutical Companies (AİFD) called on Turkey, drawing attention to the fact that a significant number of people suffer from rare diseases, emphasizing the importance of the need for appropriate legislation and of understanding the challenges facing patients with rare conditions and how important it is to meet their therapeutic needs in a timely manner. Dr. Ümit Dereli, Secretary General AİFD, underlined the importance of the industry and decision makers, as well as patients and their relatives who are affected by rare diseases, coming together and collaborating and noted that thanks to “orphan drugs,” many patients are able lead a normal life.

Approximately 350 million people and their close ones are affected by “Rare Diseases,” which are not widely known, because their rare, and of which around six thousand have been identified to date. Every year, the last day of February is celebrated around the world as the “Rare Disease Day” with events and activities aimed at highlighting the concerns caused by these conditions. In a message released on the “Rare Disease Day,” the Association of Research-Based Pharmaceutical Companies (AİFD) underlined the need for all individuals and organizations concerned with rare diseases to act together.

In Europe, diseases which affect one in every two thousand persons in the society, mostly chronic and life-threatening conditions, are classified as a rare disease. Around six thousand rare diseases have been identified to date, which affect fewer people compared to more common conditions. It is thought that 80 percent of rare diseases are caused by genetic and 20 percent from environmental factors. Although mostly these conditions manifest in childhood, they also occur in adults at considerable rates. Estimates place the number of people with rare diseases at 5 to 6 percent of the population, and studies have shown that approximately 350 million people in the world, and 5 to 6 million in Turkey, prorated to the Turkish population, and their relatives are affected  by rare diseases. The studies have also shown that 75 percent of rare diseases affect children, and an estimated 30 percent of patients with a rare disease die before the age of 5.

AİFD aims to draw attention to rare diseases by its message, recognizing a key problem in rare diseases: failure to detect it early due to low public awareness and information. Because these are rare conditions, the general public, the patients themselves, and their families and physicians usually have limited knowledge of the signs and symptoms of rare diseases, AİFD says, and notes that patients usually struggle for years to receive an accurate diagnosis, after seeing scores of specialists. AİFD points to a sensation of being alone and abandoned, felt by patients and their relatives,  and says it takes an estimated 5 years on average from the onset of symptoms until receiving the correct diagnosis, based on international studies.

Although “orphan drugs,” a designation describing human medicinal products which are used to diagnose, prevent or treat life-threatening or debilitating rare conditions, have highly definitive benefits, they are not considered economical, since they are used in relatively low volumes, and therefore their development and manufacturing is often neglected. In this respect, a “national policy must be defined,” and “regulatory transposition and harmonization with regulations of developed countries” and “incentives for rapid access to treatment” for “rare diseases” and “orphan drugs” must be prioritized, Dr. Ümit Dereli, Secretary General AİFD, says and adds that an Orphan Drugs Act was enacted in the US in 1983, and in the EU since early 2000s, and Turkey must also take the necessary steps at the earliest possibility, considering that people have the right to access treatment and medicine.

Despite the difficulties posed by the absence of an orphan drugs policy in Turkey, the government has taken steps to meet treatment needs of diagnosed patients who have an urgent need through individualized import of medicinal products. However, only 22 percent of orphan drugs currently approved in Europe for the treatment of rare diseases have marketing authorization in Turkey, Dr. Ümit Dereli says, and notes that another 40 percent are imported into Turkey through Turkish Pharmacists’ Association (TEB) upon Ministry of Health approval, but the remaining 38 percent of these drugs continue to be inaccessible to patients.

Dr. Ümit Dereli, Secretary General AİFD also said 2,6 million people gained access to treatment over the past 13 years since the directives implemented by EU, and added that the industry has a responsibility for providing better health to patients through “human-centered” pharmaceutical policies. Innovative pharmaceutical companies invest over USD 120 billion every year around the world for developing new drugs and treatments that improve the quality of life, Dr. Dereli said, and noted that these investments included those for developing new drugs for the treatment of rare diseases and the innovative drugs made available to patients help millions lead a higher-quality and more active life every year.

A call for unity in combating rare diseases

Dr. Ümit Dereli said rare diseases are a far larger public health concern than it may appear and all parties’ finding a common denominator and uniting for public interest is essential for success, and called for “Saving Rare Diseases from Orphanage” for public unity and mobilization in combating rare diseases. AİFD Secretary General Dr. Dereli said it is possible to reduce the social burden by diagnosing and providing access to treatment of rare diseases by building bridges between all stakeholders through more communication and collaboration: “AİFD will continue collaborating with all stakeholders on this issue” he said.

National Policy for Rare Diseases and Orphan Drugs

The “Orphan Drugs Workgroup,” an organ of the Association of Research-Based Pharmaceutical Companies, is working to raise public awareness of rare diseases and driving establishment of national policies on the issue, AİFD Secretary General Dr. Dereli said, and added that they aim to create long-term projects that bring together all rare disease and orphan drug stakeholders, and help raise public awareness and contribute to the establishment of national health policies. Dr. Dereli noted that an action plan for creating a national health policy for rare diseases and orphan drugs is included in the “Turkish Pharmaceutical Industry Strategy Paper and Action Plan (2015-2018),” finalized with the agreement of the Ministry of Development, the Ministry of Health, Social Security Institution and Turkish Medicines and Medical Devices Agency, under the coordination of the Ministry of Science, Industry and Technology.