EB156(15)

Having considered the report by the Director-General;

Recognizing that a rare disease is often described as a specific health condition affecting fewer than 1 in 2000 individuals in general population, and that there are currently more than 7000 known rare diseases impacting more than 300 million people globally, with 70% of these conditions starting in childhood; 3 and that, while the frequency of most rare diseases can be described by prevalence, some rare diseases can be more precisely described by incidence; 4

Noting that rare diseases are often complex and multisystemic, affecting multiple organs and leading to comorbidities, and that many of these conditions are chronic, progressive and can consequently result in serious disabilities and premature death;

Recognizing that some persons living with a rare disease have disabilities, which may have a greater impact on their health, and that they may also face various barriers, which may hinder their full and effective participation in society on an equal basis with others; 4

Recognizing also that, in addition to the physical impact, some persons living with a rare disease, their families and caregivers may experience discrimination and psychosocial consequences, such as isolation, stigmatization and limited opportunities for social inclusion, which are often intensified by a lack of public awareness and knowledge and the absence, limited scope or poor implementation of policies and social support;

Recognizing further that persons living with a rare disease (including those whose disease is undiagnosed), their families and caregivers may be psychologically, socially and economically vulnerable throughout their life course, facing specific challenges in several areas, including but not limited to physical and mental health, education, employment, financial well-being and leisure;

Emphasizing the importance of adopting a holistic patient-centred approach to address the needs of persons living with a rare disease, focusing on enhancing their functioning and working with society to remove, to the extent possible, the barriers they face in accessing health, education, employment and other domains of life;

Noting that the high prices of many health products for rare diseases, and inequitable access to such products within and among countries, as well as the financial hardships associated with their high costs pose significant challenges for some persons living with a rare disease;

Recognizing from an equity perspective that women and children living with a rare disease encounter greater challenges in accessing care, including the late diagnosis, biases in symptom assessment and reduced access to timely and appropriate treatment, which significantly impact their quality of life and overall health outcomes;

Recognizing also the importance of achieving universal health coverage, including for persons living with a rare disease and their families and caregivers, and that universal health coverage implies that all people have access, without discrimination, to nationally determined sets of essential quality health services, from health promotion to disease prevention, treatment, rehabilitation and palliative care, as well as essential, safe, affordable, effective and quality medicines, vaccines, diagnostics and health technologies, including assistive technologies, ensuring that the cost of using these services does not lead to financial hardship;

Recognizing further the importance of implementing integrated care, considering the health system along with social and community services, for enabling persons living with a rare disease to achieve optimal health and well-being;

Acknowledging that to enhance physical and mental health, well-being and life expectancy for everyone, it is essential to achieve universal health coverage, including persons living with a rare disease;

Recalling in particular the United Nations Sustainable Development Goal target 3.8 (Achieve universal health coverage, including financial risk protection, access to quality essential health-care services and access to safe, effective, quality and affordable essential medicines and vaccines for all), the United Nations political declaration of the high-level meeting on universal health coverage (2019), 5 which includes rare diseases, and the political declaration of the high-level meeting on universal health coverage (2023), 6 reaffirming the commitment to ensure that no one is left behind, and other universally agreed resolutions and declarations;

Recalling also United Nations General Assembly resolution 76/132 (2021) on addressing the challenges of persons living with a rare disease and their families, which paved the way for greater integration of rare diseases into the agenda and priorities of the United Nations system;

Noting that reaching the correct diagnosis can take more than five years, that many persons living with a rare disease never receive a timely or adequate diagnosis, although nearly half of genetic diseases start in childhood, and that insufficient screening programmes, including newborn screening, and unequal access to diagnostic services, infrastructure and expertise contribute to delayed diagnosis and management;

Noting also that for undiagnosed persons with a suspected rare disease, entering a coordinated diagnostic and research pipeline offers a unique hope to speed up diagnosis, as recognized by the International Rare Diseases Research Consortium;

Recalling resolution WHA76.5 (2023) on strengthening diagnostics capacity, which recognizes that diagnostic services are vital for the prevention, diagnosis, case management, monitoring and treatment of communicable, noncommunicable, neglected tropical and rare diseases, and which emphasizes equitable access to diagnostics for all, and highlights the importance of diagnostics for healthcare service delivery, ranging from prevention to treatment, as well as access to research projects on diagnostics;

Recalling also resolution WHA75.8 (2022) on strengthening clinical trials to provide high-quality evidence on health interventions and to improve research quality and coordination, in which the Health Assembly called on Member States, inter alia, “to encourage the targeting of clinical trials towards the development of health interventions that address public health priorities and concerns of global, regional and national importance, including communicable and noncommunicable diseases, with a focus on the health needs of developing countries, and that evaluate the safety and efficacy of health interventions, including having special regard to common diseases in low- and middle‑income countries, unmet medical needs, rare diseases and neglected tropical diseases”;

Recalling further resolution WHA77.2 (2024) on social participation for universal health coverage, health and well-being, in which the Health Assembly urged Member States, inter alia, to strive “to ensure that social participation influences transparent decision-making for health across the policy cycle, at all levels of the system”;

Recalling resolution WHA77.5 (2024), in which the Health Assembly invited Member States, inter alia, to consider implementing a universal newborn screening programme, including comprehensive screening for congenital disorders; and  recognizing the importance of early detection programmes, including those for prevention and mitigation of health conditions that may result in disabilities, while also addressing the specific needs and considerations for diagnosis, management and long-term care that meets the needs of affected children;

Recognizing that early identification can prevent the onset of disease symptoms or delay the progression of both common and rare diseases, thereby reducing child mortality and morbidity, improving the quality of life of persons living with a rare disease and conferring significant benefits on them, their families, their caregivers and society as a whole;

Acknowledging the disparity of resources between rural and urban areas within and among countries, the limited availability and geographical dispersion of rare disease specialists and centres of expertise, along with the lack of patient pathways, referral systems and effective knowledge-sharing platforms, which hinders necessary consultations with specialists on diagnosis and optimal patient care, thereby resulting in suboptimal clinical management for persons living with a rare disease;

Noting that owing, in part, to limited resources for research, diagnosis and treatment along with the insufficient equitable investment and financial incentives for drug development in rare diseases, more than 95% of rare diseases still lack an effective treatment;

Acknowledging that even when treatments and care are available, high costs may often lead to delayed, inconsistent and inequitable access;

Acknowledging also that rare diseases fall within the scope of the WHO's Fourteenth General Programme of Work, 2025–2028, as well as WHO's efforts to achieve the goals outlined in its first strategic priority of extending universal health coverage to one billion more people as stated in WHO's Thirteenth General Programme of Work, 2019–2025, and in alignment with countries' national context and priorities;

Acknowledging further that, although each country, in line with its national context and priorities, faces unique challenges in meeting the needs of persons living with a rare disease, there are common issues, such as constrained health budgets and a shortage of specialized services, resources and expertise leading to health inequities within and among Member States, that collectively result in persons living with a rare disease worldwide often struggling to access the care and support they need;

Highlighting Secretariat's commitment to promote health equity and provide support to Member States in ensuring that all persons living with a rare disease, regardless of their condition, receive timely and appropriate healthcare services;

Emphasizing the critical need for global collaboration to tackle the unique challenges faced by persons living with a rare disease, and by their families and caregivers, especially mothers – including: the implementation of policies and programmes that prevent and combat stigmatization and social exclusion; accurate data collection; and increased awareness – in line with countries' national context and priorities;

Recognizing the need to foster innovation that promotes social cohesion and reduces inequalities and discrimination, and to enhance research efforts and develop innovative therapies for rare diseases;

Underscoring the need to address the root causes of inequality and discrimination faced by persons living with a rare disease, their families and caregivers, and in this regard recognizing that there is a need for health policies and programmes to foster inclusion and create an environment conducive to respect for their rights and dignity;

Noting that rare diseases may lead to disabilities, and in this regard, recalling the principles embodied in the Constitution of the World Health Organization and the Convention on the Rights of Persons with Disabilities, and stressing the importance of their implementation, including inter alia through relevant policies, programmes and strategies at national and international levels to promote inclusion and rights of persons with such disabilities;

Recalling United Nations General Assembly resolution 78/12 (2023) entitled World Duchenne Awareness Day, 7 in which the General Assembly decided to designate 7 September, the current World Duchenne Awareness Day, as a United Nations Day, recognizing that Duchenne muscular dystrophy is one of the most common paediatric genetic rare diseases, and encouraging Member States to raise awareness on the specific challenges and needs faced by persons living with a rare disease, their families and caregivers through national campaigns, educational programmes and information dissemination, with the goal of fostering greater understanding and empathy towards those affected by rare diseases and promoting global solidarity,