Even though names such as cystic fibrosis, Huntington’s disease, hemophilia, retinoblastoma or amyotrophic lateral sclerosis often come up in medical shows, in real life they fall in the category of rare diseases. In the European Union, a disease is defined as rare if it affects fewer than 5 in 10,000 people. This does not mean, however, that the total number of patients with rare conditions is small. In fact, rare diseases affect around 350 million people worldwide, which is quite a challenge for the clinical trials industry.
Specific features of rare diseases
Most rare diseases are genetic in origin, but the group also includes rare cancers and autoimmune conditions. The first signs may be seen at birth or in childhood, but because of the uncommon nature of rare disorders – and hence limited experience of physicians and poorer access to specialist diagnostic services – the path to a correct diagnosis and effective treatment is often long and tortuous. What is more, patients navigating the lengthy diagnostic and therapeutic process tend to feel isolated and vulnerable.
An orphan drug is a drug for a rare disease or condition. The name comes from orphan diseases – a group of conditions which also includes rare diseases. However, the category of orphan diseases encompasses not only conditions with a relatively low prevalence, but also other diseases such as malaria, cholera or tuberculosis, which occur mostly in developing countries and, as a result, provide little economic incentive for the pharmaceutical industry. This is because developing and marketing orphan drugs is associated with high costs, while proceeds from sales are not sufficient to recoup the invested capital.
Clinical trials on rare diseases
Despite the difficulties involved in establishing appropriate study groups and the need for large financial outlays, recently there has been an increase in the number of clinical trials in the field of rare diseases. Based on the clinical trials regulations adopted in the European Union and the United States, it is possible to obtain financial support and assistance in the development of study protocols, or streamline approval procedures.
Role of effective communication in conducting clinical trials
In view of the limited number of patients enrolled in clinical studies, appropriate information and recruitment communications play an essential role. It is important to be in constant contact with patients and keep them abreast of ongoing research. Also, documents addressed to patients should be written in a language they understand.
At KONTEKST, we cooperate with over a hundred medical practitioners and consultants. We are proud to have extensive experience in translating clinical trial documentation and other types of texts in the field of medicine, including rare diseases.
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