More spinal muscular atrophy (SMA) patients are reaching adulthood and requiring lifelong treatment, a challenge the Ukrainian healthcare system wasn’t prepared for. Vitaliy Matyushenko, the president of Children with Spinal Muscular Atrophy, (Ukraine), explores how access to therapeutic advances is dependent on age 

Written by Vitaliy Matyushenko, President, Children with Spinal Muscular Atrophy, (Ukraine)

Over the past decade spinal muscular atrophy (SMA) has ceased to be an absolute, inevitable diagnosis. Genetic and disease-modifying therapies have fundamentally altered the natural history of the condition, enabling individuals to live longer, preserve motor function and plan for the future. However, in Ukraine, access to these therapeutic advances is still determined not only by clinical indications but also by the patient’s age. For many individuals living with SMA, reaching adulthood does not mark a new stage of life, but rather a severe risk of losing treatment continuity.

Every year August unites the global community around SMA Awareness Month. This is a time to highlight scientific breakthroughs and new opportunities for patients. Yet, for the Ukrainian adult patient community, this month remains a reminder of a different reality: even with the availability of modern drugs, the path to them often turns into a therapeutic odyssey and treatment continuity depends not only on medical indications but also on age and place of residence.

Our study demonstrated a simple yet alarming pattern: in Ukraine, access to SMA treatment is not determined solely by medical indications. Upon turning 18, a patient’s chances of receiving uninterrupted therapy decrease significantly, and the place of residence increasingly determines the stability of treatment no less than the clinical condition itself.

This analysis is based on the results of a registry-based study that combined data from the Ukrainian SMA Patient Registry with a standardised online survey of patients and their family members. The analysis included 92 valid questionnaires, representing more than half (53.8%) of the active registry users currently residing in Ukraine. The cross-validation of survey responses with registry data minimised self-identification errors and ensured the reliability of the findings. This approach allows for an assessment of not just the formal existence of state programs but how they function in the real lives of people with SMA—from the initial prescription of therapy to its actual, uninterrupted receipt.

When medical progress outpaces the healthcare system

Historically, the attention of clinicians and public policy regarding SMA was focused predominantly on children. The most severe forms of the disease in infants defined the priorities of medical care development, while adult patients remained nearly invisible to the system for a long time.

However, the advancement of therapy has changed the nature of the disease. Children grow up. Patients with milder and moderate forms increasingly reach adulthood. Along with this, a new cohort of individuals has emerged for who treatment must be lifelong and uninterrupted. This is precisely the model for which the Ukrainian healthcare system was not adequately prepared.

For orphan diseases access to treatment is not a one-time decision to procure a drug. It is a continuous process that includes timely diagnosis, guaranteed funding, stable logistics and a seamless transition from paediatric to adult care. If even a single link in this chain breaks, the individual remains enrolled in the program only formally, forced to manage their own treatment independently.

Science becomes justice only when it seamlessly reaches every individual, regardless of their age or geographical location. In the context of progressive neuromuscular diseases, any delay in supply is not merely an administrative inconvenience—it leads to the irreversible loss of motor function.

The data reveals a generational divide

Comparing the survey results with data from the Ukrainian SMA Patient Registry confirmed the high representativeness of the study and allowed for an assessment of the situation not just through individual stories, but across the entire patient community.

The results demonstrate a stark age gap in access to disease-modifying therapy. According to the verified survey results, 67.3% of children receive treatment, whereas among adults this figure stands at only 47.5%. A matching trend is confirmed by the structure of the registry itself, where treatment coverage reaches 68.3% among children and only 41.8% among adults.

These figures reflect a healthcare model in which priority was historically given to paediatric care. At the same time, the lack of clear funding mechanisms for the adult cohort means that after turning 18, many patients are effectively forced to requalify for treatment and fight for their right to continue treatment.

Paper access does not guarantee treatment

Even the official prescription of a drug does not guarantee the continuity of therapy. The study uncovered another critical problem: one in two adult respondents (50.0%) reported regular delays or supply disruptions in receiving scheduled doses of medication. In comparison, only about 12% of respondents in the paediatric group reported such difficulties.

For SMA disease-modifying therapy this is not merely an administrative problem. Every delay increases the risk of irreversible loss of motor function, which modern medicine is no longer capable of restoring.

The situation is further exacerbated by the uneven distribution of regional funding and organisation of drug supply, which effectively creates regions experiencing chronic treatment shortages.

The patient registry as an independent healthcare audit

Traditionally, patient organisations are perceived as sources of personal stories and advocacy campaigns. However, modern patient registries perform a much broader function. They serve as an independent source of evidence-based data, capable of evaluating the effectiveness of public policy where official statistics reflect only administrative indicators.

The Ukrainian SMA Patient Registry, combined with standardised online surveys, effectively performs the role of an independent audit of the healthcare system. It allows for an evaluation of not just the fact of drug procurement but its actual availability to a specific patient.

Once again, the registry results expose the gap between the guarantees declared by the state and the real lives of patients. The formal inclusion of a drug in a state program does not yet mean its timely receipt, and the right to treatment does not always translate into its continuity.

The cross-validation of responses with registry data eliminated self-identification errors and ensured high reliability of the study findings. This confirms that patient registries are not only a source of epidemiological information but also an effective tool for evaluating the outcomes of public policy in the field of rare diseases (orphan diseases).

Breaking the cycle of inequality

The core problem no longer lies in the absence of effective treatment for SMA. The problem lies in the absence of a system capable of guaranteeing its uninterrupted delivery throughout a patient’s lifetime.

The results of the study serve as a clear signal to Ukrainian institutions regarding the urgent need to revise the current model of orphan care provision.

The primary steps must include:

• applying transparent mechanisms of continuity of care during the transition from paediatric to adult services, thereby eliminating any interruption in therapeutic and diagnostic support
• regulating state policy mechanisms for centralised procurement, which will prevent supply disruptions regardless of the patient’s region of residence

Scientific progress has made SMA treatment a reality. The next challenge is to make it equally accessible to every person, regardless of age and place of residence. Until this happens, patient registries will remain one of the most accurate independent indicators of how well public policy aligns with its stated commitments. Ultimately, the efficacy of a healthcare system is measured not by the volume of purchased medications, but by the number of people who receive them continuously.

Expert analysis based on real-world data

This material was prepared as part of the monitoring of access to care for rare diseases. To analyse the effectiveness of drug provision mechanisms, a methodological combination of an independent patient registry and a standardised online survey was utilised, enabling assessment of real-world treatment accessibility for SMA patients in Ukraine.

To learn more please visit: https://csma.org.ua/
Facebook https://www.facebook.com/childrenSMA

---