Rare Disease Day is an important event that, for the past 18 years, has been raising awareness about the difficult journey that patients with rare diseases face in obtaining a timely diagnosis and adequate treatment. Every year, it is observed around the world on February 28. Even in the Czech Republic, the number of patients with rare diseases is not insignificant, which is why several events focused on raising awareness and supporting these patients are held here.
In Brno, Rare Disease Day is organized annually by the Institute of Medical Genetics and Genomics at Masaryk University’s Faculty of Medicine and Brno University Hospital. This year, it took place on February 24 at the Mendel Greenhouse on the grounds of the Augustinian Abbey. The program focused on bringing together experts from the healthcare sector, patient organizations, and the general public, thereby creating a space for sharing experiences and insights in the field of rare diseases.
The Importance of Public Awareness Regarding Rare Diseases
According to expert estimates, there are currently about 8,000 known rare diseases. They are typically characterized by complex diagnosis, a shortage of specialized experts, and limited treatment options. According to Dr. Renata Gaillyová, a clinical geneticist at the Institute of Medical Genetics and Genomics at the Faculty of Medicine, Masaryk University, and Brno University Hospital, the main benefit of Rare Disease Day is raising public awareness of these issues and involving patients in discussions about treatment approaches and research. As she herself emphasizes: “I consider Rare Disease Day to be an educational event aimed at providing people with information about diseases that occur so rarely that even specialized physicians who have been working in the field for decades may never encounter such a patient even once during their careers.”
In the Czech Republic, it is estimated that approximately half a million patients suffer from rare diseases. Nevertheless, the path to an accurate diagnosis is often very lengthy and, for some diseases, can take several years. According to Prof. RNDr. Šárka Pospíšilová, Ph.D., head of the Institute of Medical Genetics and Genomics at the Faculty of Medicine, Masaryk University, and Brno University Hospital, it is therefore essential that not only doctors but also scientists and other experts be involved in addressing this issue: “Patients with rare diseases deserve the attention of doctors, scientists, and other specialists who can help improve the quality of their diagnosis and treatment and raise awareness about their condition. That is why, for many years now, our department has been organizing multidisciplinary activities on Rare Disease Day that facilitate a broad discussion of this issue.”
Newborn Screening: A Milestone in the Early Diagnosis of Rare Diseases
One of the main topics of this year’s Rare Disease Day was newborn screening, which currently covers 20 different diseases in the Czech Republic. This program is a key tool for early diagnosis, which can significantly impact patients’ quality of life. Dr. Gaillyová emphasizes its importance: “It is essential that people know that newborn screening can detect diseases even before symptoms appear in a child. It involves a simple test using a drop of blood from the newborn’s heel and can detect serious diseases that, thanks to advances in medicine, can now be treated. In most cases, this involves rare diseases, and I call it a blessing in disguise. Although the family learns of a serious illness shortly after the child’s birth, it is precisely because these diagnoses are part of the screening that we can immediately begin treatment and offer children a good prognosis.”
New Diagnoses in Screening: SMA and SCID
In recent years, newborn screening has been expanded to include spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). Early detection of SMA allows for the initiation of treatment that improves the child’s mobility and overall prognosis, while in SCID, it is critical to begin therapy before severe immune system failure occurs.
According to Karolína Pešková, head of the Diagnostic Laboratories for Inherited Metabolic Disorders at the General University Hospital in Prague, the Czech Republic is performing well in the area of newborn screening, and in the future, screening will focus more on genetic testing. As she herself emphasizes: “The expansion of screening should proceed prudently and focus on diseases that are actually treatable, so that parents have clear information and access to appropriate treatment. Discussions about additional diagnoses and the possibilities of molecular genetic testing in practice are ongoing, and it is very likely that the number of diagnoses included in routine screening will increase.”
Gene and Cell Therapies: A Ray of Hope for Patients
Advances in gene and cell therapy are offering patients with rare diseases ever-greater hope for effective treatment. The CREATIC Center of Excellence at the Faculty of Medicine, Masaryk University, is dedicated to developing advanced therapies that could fundamentally change the approach to treating a number of genetically determined diseases in the future.
As explained by Assoc. Prof. Pavlína Danhofer, M.D., Ph.D., head of the Department of Pediatric Neurology at Brno University Hospital and the Faculty of Medicine, Masaryk University, genetic diagnostics in pediatric neurology is advancing rapidly, and an increasing number of patients who previously had no diagnosis are now receiving one: “In pediatric neurology, the scope of genetic diagnostics has been expanding significantly recently, so many patients who previously had no diagnosis are now receiving one; these are precisely the patients with rare diseases, and once we diagnose them, we look for treatment options. These treatment options are limited; in most cases, there are only a few patients worldwide. In these cases, we collaborate with MUNI | CREATIC. If we know the relevant gene, we contact CREATIC, and they conduct a detailed search to determine where clinical trials are available worldwide and whether the patient is eligible to participate. As a result, patients sometimes travel abroad, seek out sponsors, or organize national fundraising campaigns.”
Linking Research and Clinical Practice
Collaboration among physicians, research centers, and patient organizations is essential for faster diagnosis and access to innovative therapies. However, research and development of new treatment methods are extremely costly and logistically demanding. Therefore, the importance of international collaboration, knowledge sharing, and the harmonization of criteria is growing so that rare diagnoses can be accurately described, monitored, and treated in a targeted manner. “The future of treatment lies in standardization. If we can identify a gene, an adenoviral vector will be created, gene therapy will be developed, and we will provide the patient with a tailor-made treatment based on which gene is defective,” added Danhofer.
The Role of Patient Organizations
Patient organizations remain important partners for experts and medical centers. Their role is not only to represent patients in negotiations with institutions, but also to provide information, share experiences, and offer mutual support to families who, upon receiving a diagnosis of a rare disease, often find themselves in a completely new and challenging situation. ČAVO (the Czech Association for Rare Diseases) serves as an umbrella organization for many smaller patient groups as well as individual members who suffer from so-called ultra-rare diseases.
According to Bc. Anna Arellanesova, a representative of ČAVO, says it is crucial to push for systemic changes that can improve access to specialized care and ensure sustainable funding for treatment: “When you talk to these families and hear their stories, I really wish this transition could happen even faster so that we can implement these systemic changes more quickly, ensuring that patients receive the care they need, have access to treatment, and that there are enough specialists available.” Outpatient clinics for undiagnosed children, which help families arrive at the correct diagnosis, offer great hope. Such clinics already exist in Prague and Brno. “We welcome the establishment of clinics for undiagnosed children, which are sorely needed, because we have clinics where they work with the families of sick children to find the path to the correct diagnosis—that’s something amazing, and we’re very grateful for it. We are also grateful for the research that CREATIC is conducting, because research into rare diseases has been neglected until recently, even though we believe it is very important,” added Arellanesová.
Patient Workshop: The Active Role of Patient Representatives in Clinical Trials
The lecture series concluded with a patient workshop organized by the CREATIC Center of Excellence at the Faculty of Medicine, Masaryk University, which offered participants insight into how patients can get involved in clinical trials not only as participants but also as patient advocates. There was also a discussion on how patients can contribute to improving clinical trials so that they better reflect their needs and bring real benefits to the patient community.
As PharmDr. Lenka Součková, ECRIN’s European correspondent, explained: “Our goal is also to improve patient care; in collaboration with the CZECRIN Large-Scale Research Infrastructure, we are involving patients in clinical trials. Clinical trial registries are a key source of information. All registries that meet WHO criteria are consolidated on a platform accessible to patients, where they can find both completed trials and their results, as well as trials that are currently recruiting. “For example, in Europe, over 6,000 studies have been conducted in the field of rare diseases. Currently, there are 1,700 active studies in Europe in which patients with rare diseases can enroll; 534 of these are for the pediatric population.” PharmDr. Součková also highlighted the successful completion of a clinical trial for patients with epidermolysis bullosa (butterfly disease) within the CZECRIN framework, which was made possible by properly defined criteria and close collaboration with the patient organization DEBRA. This approach underscores the importance of patients’ active participation in the research and development of new treatment methods, which is key to the further advancement of personalized medicine and the improvement of care for patients with rare diseases.
