II Forum of CIS countries on orphan diseases

Blood clotting disorders, including hemophilia, are among the orphan diseases that require a comprehensive approach to diagnosis, treatment and long-term monitoring. Effective organization of care in this area is impossible without the development of specialized centers, training of medical personnel, ensuring sustainable drug supply and the formation of national patient registries.

The session participants will present the current situation in their countries: how diagnostics and patient routing are organized, what financing mechanisms are used, how accessible modern methods of therapy are and how the monitoring system is structured. The main barriers will be identified, including regulatory, organizational and resource ones, and areas for further interaction and exchange of experience between the CIS countries will be proposed.

The session will also present practical approaches to patient management in new therapeutic conditions, including the specifics of surgical interventions and the organization of orthopedic care.

*Report: "General surgery in the era of emicizumab: Russian experience and key findings", with the support of ROSH.

** Report: "Practice of orthopedic operations in patients receiving emicizumab", with the support of ROSH.

The session is dedicated to the discussion of current issues of diagnostics, treatment and organization of care for children with rare tumor diseases. The focus is on the epidemiological situation in the CIS countries, clinical features of such diseases in children, as well as modern approaches to risk stratification and choice of therapy.

Particular attention will be paid to the introduction of advanced treatment methods, including cellular technologies, and the possibilities of their adaptation in the conditions of national healthcare systems. Heads of leading centers for the protection of mothers and children will present the experience of the CIS countries in patient routing, interdisciplinary interaction, development of clinical guidelines and development of specialized care infrastructure.

The session is designed to promote the exchange of experience and strengthen cooperation in order to improve the quality and accessibility of medical care for children with rare oncological diseases in the region.

*Report "Approaches to the management of patients with plexiform neurofibromas in neurofibromatosis type 1" With the support of AstraZeneca

**Report Modern possibilities of CAR-T cell therapy" With the support of AstraZeneca

The session is dedicated to discussing an integrated approach to providing care to patients with rare diseases, covering all stages of life - from early diagnosis to long-term monitoring in adulthood. The focus is on the need to build both vertical integration between levels of the healthcare system and horizontal interaction between medical, social and educational structures. Particular importance is given to the formation of interdisciplinary teams, including pediatricians, therapists, specialists, psychologists and rehabilitation specialists, as well as ensuring continuity in the transition from the pediatric to adult healthcare system.

Separately, the tasks of increasing pediatricians' alertness to rare diseases, as well as the inclusion of medical and social rehabilitation in individual patient routes are considered. The integration of rehabilitation as an integral part of continuous care helps improve functional and social outcomes, especially in life-limiting conditions.

The session will also touch upon the ethical aspect: patients with rare diseases often face discrimination, stigmatization, lack of understanding on the part of the medical community and society as a whole, which increases their psychological vulnerability. Ensuring respect for their rights and protection from stigma are important elements of an integrated and human-centered system of care. The participants of the session will present the experience of the CIS countries in building such models, and will outline the challenges and opportunities for developing a more coordinated and sustainable system of care.

Discussion questions:

• The role of interdisciplinary teams in the patient journey
• Organizing the transition from the pediatric to adult healthcare system
• Ensuring continuity of therapy and monitoring

The session is devoted to systemic approaches to organizing care for patients with spinal muscular atrophy (SMA) in the CIS countries. Participants will discuss key stages in the development of national models - from the introduction of neonatal screening and patient routing to the creation of sustainable mechanisms for drug provision and rehabilitation.

The discussion will present the experience of different countries in the region in the formation of specialized centers, interdisciplinary patient management, preparation of clinical guidelines and the formation of registries. Particular attention will be paid to issues of long-term patient support, monitoring the effectiveness of therapy and the economic sustainability of assistance programs.

Organization of drug provision for patients with rare diseases remains one of the most sensitive and costly areas for all healthcare systems. Given the high cost of therapy and limited clinical data, it is necessary to build balanced approaches that simultaneously ensure the availability of treatment and financial sustainability. The key element of such a strategy is the development of modern methods of health technology assessment (HTA), the introduction of innovative tools for data analysis and decision support.

The session participants will present current national models of drug provision: how lists of drugs are formed, how decisions are made on inclusion in restrictive lists, what approaches are applied to pricing. The main problems will be considered, including the lack of clinical data, uncertainty in predicting the effectiveness of therapy and the lack of human and methodological resources in individual CIS countries for the systematic assessment of rare technologies.

Particular attention will be paid to promising areas of development of the HTA system. The discussion will cover the expansion of the practice of assessment throughout the life cycle of a drug, the use of multi-criteria decision analysis (MCDA), which allows taking into account various components of the value of an orphan drug, including the impact on quality of life, disease burden, and the presence of unmet medical need. In addition, the potential of using artificial intelligence technologies to automate the process of analyzing real-life clinical practice data, conducting systematic reviews, economic modeling, and increasing the transparency of assessment processes will be considered. These tools can significantly improve the efficiency of decision-making and the sustainability of drug supply systems in resource-limited settings.

The session is dedicated to discussing approaches to organizing care for patients with rare diseases in the CIS countries. The focus is on the role of specialized orphan centers in forming a patient route, as well as the distribution of functions between the national and regional levels of healthcare. Participants will present national coordination models, including Kazakhstan's experience in creating an orphan center and introducing the institute of chief freelance specialists in rare diseases. Issues of training and professional competencies of specialists involved in providing care to patients with rare diseases will be discussed.

Particular attention will be paid to the practice of specialized centers in Kazakhstan, Uzbekistan and Russia, as well as the current stage of development of the system in the Kyrgyz Republic, where the foundations for institutionalizing care are being formed. The session will also voice the opinion of the patient community on priority areas for the development of the orphan care infrastructure.

Discussion questions:

• The role of specialized orphan centers in the patient's journey
• Functions of orphan centers at the national level (Kazakhstan), at the regional level (Russia)
• Institute of chief specialists in rare diseases (Kazakhstan's experience)
• Training and competencies of a specialist in rare diseases
• National and regional models for coordinating care for rare diseases

Efficient development of public policy in the field of rare diseases is impossible without a clear and coordinated regulatory framework in the field of healthcare. In the CIS and EAEU countries, significant barriers remain - first of all, the lack of a single definition of orphan status and differences in the criteria for classifying diseases and drugs as rare. These differences complicate the comparability of statistical data, hinder the formation of uniform approaches to regulation, lead to uneven access of patients to medical care and create legal uncertainty for all participants in the healthcare system.

The session will present existing approaches to the formation of the regulatory framework in the field of healthcare and regulation of circulation of drugs in the CIS countries. Participants will discuss the current criteria for determining orphan status, national models of regulation in the field of rare diseases, principles of fairness and transparency in the decision-making process, as well as possible vectors for their improvement.

Particular attention will be paid to discussing the prospects of regulatory initiatives aimed at harmonizing and harmonizing approaches to regulating orphan drugs in the CIS countries. In particular, the issue of the need to integrate relevant provisions into the framework Law on Drug Provision, which is being developed in the CIS, will be considered. Participants will discuss which elements of regulation - including the definition of orphan status, features of registration, circulation, assessment and state support for such drugs - should be enshrined in a single legal document.

The session is dedicated to discussing the contribution of patient organizations and charitable structures to the development of the care system for rare diseases. The discussion will focus on interaction with government agencies and patient participation in discussions regarding decision-making on the organization of care, lists of diseases and treatment standards.

Particular attention will be paid to the role of charitable and government financing mechanisms as tools for ensuring the availability of therapy, especially in the case of expensive treatment. Participants will discuss possible approaches to building sustainable financing models, including partnerships with the private sector and other stakeholders.

The role of patients and their associations is especially emphasized in WHO resolution WHA78.11 as a necessary element of a fair, inclusive and human-centered health care system. It is important to remember that to effectively help patients with rare diseases, it is necessary not only to ensure access to treatment, but also to develop other areas of support: psychosocial assistance, protection from discrimination and stigma, raising awareness in society. The session will be an opportunity to exchange experiences on creating an environment in which the patient's voice becomes a real factor in transformation.