Rare illnesses are defined as those that afflict no more than 10 in 100,000 persons. Estimates place the current worldwide number of such diseases at around seven thousand. About 80% of them are hereditary, which means that one family may have several members who are suffering from one of them at the same time. Specialists believe that there may be about one million people with rare illnesses who are residents of the Russian Federation. Modern medicine is intensely involved in the study of rare illnesses and the search for ways to treat them through new technologies and advances in genetics. The success of medical science is most evident in increased lifespan for patients with rare illnesses.
‘Effective pathogenetic treatment programmes that eliminate the cause of disease are now available for a range of orphan illnesses. Prompt administration of pathogenetic treatment can achieve excellent results that lengthen patient’s lives and improve their quality of life,’ explained Prof Elena Lukina, doctor of medical science, who is head of the orphan disease department of the National Research Centre for Haematology under the Ministry of Health of Russia and also the Ministry of Health’s specialist for Gaucher disease. As one example, in 2019 the state programme for high-cost nosologies added mucopolysaccharidosis type II (Hunter syndrome), and Russian patients — over 100 of them are registered — gained access to treatment.
Gaucher disease is another example of successful treatment for an orphan disease. Prompt application of enzyme replacement therapy for Gaucher disease can not only effectively arrest its progression but also restore the patient to a completely normal condition. It is important to continue to make the achievements of modern medicine more available to patients with rare illnesses and to expand the list of nosologies that have costs subsidized. For example, patients with Fabry disease who receive enzyme replacement therapy have an average life expectancy of 77 years — without it they live only 60 years. Including Fabry disease in the medicinal supply programme would allow patients with one of the most common lysosomal diseases to have the therapy they need.
‘Modern medicines have the potential to significantly extend lifespans and also improve quality of life for patients with haemophilia, and preventive treatment for those patients is now standard,’ commented doctor of medical science Viktor Petrov, head of children’s haemophilia section of the Morozov Hospital for Children under the Moscow City Department of Health. The World Health Organisation, the World Federation of Haemophilia and national Russian organisations have all approved early prophylactic therapy with replacement of blood clotting factor as the standard treatment for children with severe haemophilia, and they recommend continuation of prophylactic treatment indefinitely into adulthood. In 1900 the average life expectancy of patients with haemophilia was thirteen years; by 1960 it was thirty years; but in 2016 it reached seventy-seven years. Prophylactic application of blood clotting factor enables patients with haemophilia to lead normally active lives and prevents damage to blood vessels and other complications that result in a restricted lifestyle.
Through advances in modern medicine, some orphan diseases that used to be fatal have been made chronic and manageable, and serious complications from them can be prevented. This is the case for diseases such as hereditary angioedema (HAE). ‘The medical arsenal now includes preparations that can mitigate an attack which once would have been fatal. The preparation that prevents attacks will soon be available in Russia, and patients will be able to lead normal lives without living in fear of the onset of symptoms, observed Prof Tatiana Latysheva, doctor of medical science and head of the immunology and intensive care clinic of the Institute of Immunology of the Federal Biomedical Agency of Russia.
Inflammatory bowel disease (IBD), which afflicts tens of thousands in Russia, offers a further example. ‘Until recently, the only treatment for the severe form of this illness was surgery to create a stoma. That solution would dramatically change the lives of patients and impose major limitations. But today there is an innovative biological therapy that avoids surgical intervention and may produce indefinite remission from the disease,’ said Prof Yuri Shelygin, doctor of medical science, member of the Russian Academy of Science, director of the Ryzhikh Colorpoctology Institute and Distinguished Doctor of Russia.
Short bowel syndrome (SBS) is a very rare pathology (from 1 to 5 cases per million) due to loss of part of the small intestine. Patients cannot obtain sufficient nutrients and microelements from an ordinary diet, and they are often condemned to lifelong parenteral nutrition taken intravenously for a large part of the day and therefore exposed to dangerous complications. The registration procedure is under way right now in Russia for the first therapy of its kind to treat these patients. It has proven its effectiveness and is widely used in the USA, the European Union and other countries. It markedly decreases the need for parenteral nutrition and may even allow the patient to return to eating completely normal food and leading a fulfilling life.
The success of modern medicine in treating oncological conditions is vividly illustrated by the therapies for multiple myeloma and Hodgkin’s lymphoma. ‘There has been a substantial breakthrough in the diagnosis and treatment of multiple myeloma, which is an incurable disease that accounts for 13% of haemoblastosis (malignancies in haematopoietic and lymphatic tissue). Innovative medicines that can significantly improve patients’ survival rate and quality of life have appeared,’ reported Prof Larisa Mendeleyeva, doctor of medical science and administrative head of research and education of the National Research Centre for Haematology under the Ministry of Health. In recent studies, patients with multiple myeloma have improved their five-year survival rate from ~27% to 53.9%.
For many years, the basic treatment for Hodgkin’s lymphoma, which is a malignancy in the lymphatic system that mostly afflicts young people between the ages of 18 and 35, was polychemotherapy, and even that might be ineffective for 20% of patients with that diagnosis. A few years ago, an innovative targeted treatment became available in Russia. It provides the possibility of long-term remission, while high-dose chemotherapy followed by haematopoietic stem cell transplantation opens up the chance for a complete recovery.
The Takeda Pharmaceutical Company is expanding its scientific research efforts to continue the search for new approaches to treatment of rare illnesses. Over the next few years, the Company plans to bring to the Russian market more than ten innovative preparations that will not only cure but also prevent rare illnesses. This in turn will enable the medical community to better manage patients’ state of health and prevent relapses while permitting patients to lead active, satisfying lives.
‘The medical community, the pharmaceutical industry and patients are all part of a single system whose main goal is to do whatever it takes to make innovative treatment methods available to everyone. Regardless of their illness, our patients very much need the support of the patient community in general. Primarily, this means protection and exercise of rights while providing patients with information and an abundant social life. A frank dialogue within society would encourage them as they cope with illness and give them hope,’ observed Irina Myasnikova, chair of the board of the All-Russian Society of Orphan (Rare) Diseases.