2021: The Year of Effective Collaborations in Combating Rare Diseases


Making a statement on February 28 – Rare Diseases Day, AIFD stated that they aim to strengthen public-private sector and NGO collaborations in order to provide the necessary support for patients and patient relatives struggling with rare diseases.

There are 6 thousand identified rare diseases that affect 300 million people all over the World. 72 percent of rare diseases (with which half of those struggling are children) are of genetic origin. 70 percent of rare diseases may occur in childhood, while others may occur as a result of viral, bacterial infections, allergies or other environmental factors. Some infectious diseases, cancers, and autoimmune diseases are also considered as rare diseases. It is estimated that 3.5-5.9 percent of the world population is struggling with rare diseases. [1]

In Turkey, 1 in every 16 people has a rare disease, and it is estimated that there are over 5 million [2] rare patients. AIFD Secretary General Dr. Ümit Dereli stated that significant steps were taken in combating rare diseases thanks to the collaboration between research-based pharmaceutical companies and public organizations: “In addition to the studies conducted by Grand National Assembly of Turkey Parliamentary Research Committee,  the establishment of the the Directorate of Autism, Mental Special Needs and Rare Diseases under Health Services General Directorate ,as well as the ‘Centers of Excellence’ for the diagnosis and treatment of rare diseases were important steps taken in this area. The improvements include provision of information on diagnosis, treatment and care opportunities for the health care professionals who will be in charge of the care and treatment of patients with rare diseases, and the preparation of the necessary legal regulations. We are determined to reinforce these improvements with collaborations that will combat rare diseases and advance the healthcare ecosystem in Turkey.

Emphasizing that the COVID-19 pandemic deeply affected the lives of all patients and their relatives, AIFD Secretary General Dr. Ümit Dereli made the following statement: “As research-based pharmaceutical companies, we continued to work uninterruptedly and cooperated intensively with authorized institutions and respective stakeholders in 2020so that patients in our country, like everyone in the world, can access appropriate treatment under appropriate conditions, despite the difficult conditions. We made many visits to our stakeholders and authorized institutions in the field of rare diseases. Through this efficient cooperation, we contribute to the continuation of the vital treatments of our patients who struggle with many different rare diseases during the COVID-19 outbreak.”

COVID-19 pandemic disrupts treatment of rare diseases

According to the results of the Rare Barometer Program, which was conducted by the European Organization for Rare Diseases (EURORDIS) between 18-28 April 2020, with the participation of more than five thousand people struggling with 993 diseases in Europe , 9 out of 10 people during the pandemic period stated that there was a disruption in their treatment process. While the rate of those who stated that the disruption in treatment reflected negatively on their health (or the patient’s health whom they take care of) was 6 out of 10, 8 out of 10 stated that rehabilitation appointments such as speech therapy or physical therapy were canceled or postponed. While 3 out of every 10 people participating in the study stated that the center where they normally received treatment was closed during the pandemic period, 1 out of 2 people stated that they used methods such as online consultation or “telemedicine”. 9 out of 10 people stated that they were satisfied with the remote treatment practices and found them useful, while 6 out of 10 stated that they could not access treatments such as infusion, hormone therapy or chemotherapy. It is also stated that more than half of the operations and organ transplants were canceled or postponed during the period covered by the study.[3]

Rare Diseases Network and Rare Diseases Department are our most important stakeholders for effective cooperation

Aiming to be the voice of rare disease associations and rare individuals who do not have an association, Rare Diseases Network also organized surveys to identify the problems experienced during the pandemic period, in addition to the need analysis workshop for rare diseases and the related individual expenditure studies in rare diseases.[4] Rare Diseases Network, which transmits data (related to what happened in the treatment and application process) from 18 associations and 10 rare individuals to the Rare Diseases Unit under the General Directorate of Health Services (of the Ministry of Health) prepared a list of common solution suggestions that they think will be a priority for all patient groups and benefit the patients.[5]

SHGM Autism, Special Needs Mental and Rare Diseases Department has been meeting with NGOs regularly since the beginning of the pandemic process and provides flexibility for treatment continuity. The institution, which is working on a regulation to meet the new needs related to home healthcare services, has taken a very important step in this critical issue, the importance of which has been understood more during the pandemic period.

The Orphan Pharmaceuticals Legislation laid the groundwork for the development of 73 percent of the drugs in this field.

While the legislation studies specific to rare diseases are gaining momentum in our country, the “Estimated Impact of EU Orphan Regulation on Incentives for Innovation” was published with the support of the European Federation of Pharmaceutical Industries and Associations (EFPIA), of which AIFD is a member of. The European Commission’s Orphan Medicines Legislation (EU 141/2000), was introduced to alleviate the scientific and economic difficulties that prevent the development of treatments and medicines for rare diseases and to encourage studies on rare diseases. In the report, it is emphasized that almost 73 percent of 142 orphan drugs developed in the 17-year period in 2000 and after the legislation came into force were developed thanks to the environment that was created by the legislation and encouraged innovation. [6]

Reminding that legislation specific to orphan drugs plays a key role in accessing innovative treatments in this field, Dr. Ümit Dereli stated, “We believe that the fight against rare diseases is among the top public health priorities. One of the important parts of this struggle is to create reference studies for the treatment of rare diseases. With the unconditional support of our member companies, we started working on a research report that reveals the development areas of rare diseases in the treatment processes in our country and how access to innovative drugs in this field can be increased.. We want to contribute to the policies to be implemented in this area by increasing our work that can be used as a reference resource by all our stakeholders in 2021 and beyond.”

[1] What is a Rare Disease? https://www.rarediseaseday.org/article/what-is-a-rare-disease

[2] nadirhastaliklaragi.org.tr

[3] Press Release_COVID19surveyresults.pdf (eurordis.org)

[4]  Nadir Hastalıklar Ağı, Pandemi Acil Durum İhtiyaç Çalışması Raporu (Rare Diseases Network, Pandemic Emergency Needs Study Report).

[5] COVID-19’un “Nadir” Yüzü Media Statement. https://www.nadirhastaliklaragi.org.tr/duyuru/57/covid-19-un-%EF%BF%BDnadir-yuzu-basin-aciklamasi

[6] Estimated Impact of EU Orphan Regulation on Incentives for Innovation, DOLON, 2020. https://dolon.com/dolon/wp-content/uploads/2020/10/Estimated-impact-of-EU-Orphan-Regulation-on-incentives-for-innovation.pdf