Navigating Challenges in Pompe Disease Treatment and Research in Eastern Europe

Pompe disease is an inherited rare disease, often fatal, with the potential to damage the heart, liver, and skeletal muscles. Absence of an essential protein, Due to the mutation in a gene encoding GAA, there is an absence of a critical protein leading to a complex buildup of sugar, hence, damaging the heart, liver, and other organs. The mutated gene hampers the lysosomal-mediated degradation of glycogen resulting in its intralysosomal accumulation and disrupting the tissue architecture, thus known as glycogen storage disease type II (GSDII).

According to the American Association of Neuromuscular & Electrodiagnostic Medicine, Pompe disease (GSD II) has a broad clinical spectrum, and the combined Pompe disease prevalence is estimated to be 1 in 40,000, affecting both males and females equally.

If we talk about different ethnicities, African Americans are affected more or less in a similar pattern, with Pompe disease incidence as high as 1:14,000. DelveInsight estimated that the total number of people diagnosed with Pompe disease in the United States will grow at a CAGR of 0.48% for the study period of 2017 to 2028. The growing support from the organizations, advancements in Pompe diagnostic methods, and a better understanding of the disease attracted many key drug players to advance the Pompe disease pipeline.

DelveInsight’s analysts studied the Pompe disease market trends in emerging markets other than seven major markets, and the results were more or less similar.

The Pompe disease emerging markets that have been studied for the study period 2020-2034 can be divided basically into four regions based on their geographical locations namely, i.e. Middle East (UAE and Saudi Arabia), Asia (China and Taiwan), Eastern Europe (Turkey and Russia) and Latin America or LATAM ( Colombia, Argentina, Brazil and Mexico).

The market for Pompe disease in Eastern Europe, particularly in countries like Russia and Turkey, is gaining attention as an emerging market for treatment and research. Recent findings from the Union of Pediatricians of Russia and the Russian Society of Medical Geneticists indicate that while the exact prevalence of Pompe disease in Russia remains unclear, estimates suggest an incidence rate ranging from 1 in 140,000 to 1 in 60,000 across various ethnicities. This variability in incidence highlights the need for improved diagnostic measures and awareness of the disease within the healthcare system.

In Turkey, the focus has shifted towards enhancing diagnostic capabilities rather than establishing a clear epidemiological profile for Pompe disease. The lack of standardized parameters for assessing incidence and prevalence has led to confusion in the healthcare community, where incidence rates are often mistakenly interchanged with prevalence figures. This situation underscores the urgent need for comprehensive epidemiological studies to accurately define the patient population affected by Pompe disease in Turkey.

According to DelveInsight estimates, there are currently between 5,000 and 10,000 cases of Pompe disease globally; however, these figures are believed to be underreported. The actual number of cases may be significantly higher due to misdiagnosis and the limitations of existing diagnostic methods. As highlighted by recent reports, ongoing advancements in genetic testing and newborn screening programs are essential to improving detection rates and ensuring timely treatment initiation.

The Pompe disease market growth is driven by factors such as increased awareness, orphan drug designations, and ongoing research initiatives aimed at developing innovative therapies. In Eastern Europe specifically, there is a growing emphasis on clinical trials and research collaborations focused on gene therapy and enzyme replacement therapy (ERT), which are essential for improving patient outcomes.

As of October 2023, there are 37 active clinical trials for Pompe disease globally, with many focusing on gene therapy techniques and the efficacy of various ERTs. These trials are crucial for advancing treatment options and understanding the disease’s progression better. Notably, institutions such as Duke University and the University of California are at the forefront of research efforts aimed at exploring gene transfer interventions using adeno-associated virus vectors.

How has the Russian-Ukraine War Impacted the Pompe Disease Market in Eastern Europe?

The ongoing conflict between Russia and Ukraine has significantly impacted the healthcare landscape in Eastern Europe, particularly concerning the management and treatment of rare diseases like Pompe disease. The war has disrupted clinical trial activities, strained healthcare resources, and altered the dynamics of patient care in both Russia and Ukraine, creating a challenging environment for stakeholders involved in rare disease management.

In Russia, the war has led to the withdrawal of many international pharmaceutical companies from the market, which has directly affected clinical trials for various conditions, including Pompe disease. According to reports from Clinical Trials Arena, major pharmaceutical firms have suspended their operations in Russia due to ethical concerns and logistical challenges. This withdrawal has resulted in a significant reduction in available clinical trial sites, limiting opportunities for local patients to participate in potentially life-saving research. As of early 2023, only a few foreign-sponsored trials were registered in Russia, reflecting a stark decline in research activity during the conflict. The situation leaves many patients without access to cutting-edge therapies and puts them at risk of being deprived of necessary treatments.

In Ukraine, the healthcare system has faced severe disruptions due to the war. Reports indicate that primary healthcare providers have struggled with resource shortages and staff displacement as many healthcare professionals left the country or were internally displaced. Although there was an initial chaos following the invasion, many providers managed to stabilize their operations by mid-2022; however, they still face ongoing challenges such as inadequate funding and logistical difficulties in accessing medications. The impact on rare disease patients is particularly concerning, as healthcare systems are often ill-equipped to handle complex conditions like Pompe disease amidst broader public health crises.

The war’s economic ramifications have also affected the availability of treatments for Pompe disease in Eastern Europe. With increased military spending taking precedence over healthcare funding, resources allocated for rare diseases have diminished. In 2023, Russia’s federal budget for healthcare was projected to decrease slightly while military expenditures surged. This shift prioritizes war efforts over essential health services, exacerbating existing challenges within the healthcare system and limiting access to necessary treatments for patients with rare diseases.

Despite these challenges, there is a glimmer of hope for the future of Pompe disease management in Eastern Europe. The region is witnessing a renewed interest from international sponsors looking to establish clinical trials in less affected areas. As countries like Poland and Hungary position themselves as attractive locations for clinical research due to lower costs and an abundance of willing participants, there is potential for recovery and growth in clinical trial activities across Eastern Europe.

Moreover, organizations like the World Health Organization are actively working to refine primary healthcare financing in Ukraine and improve service delivery amidst ongoing conflict. These efforts aim to enhance access to care for all patients, including those with rare diseases like Pompe disease. As Eastern Europe navigates this turbulent period, it will be crucial for stakeholders—including governments, healthcare providers, and pharmaceutical companies—to collaborate effectively to ensure that patients receive timely diagnoses and access to innovative treatments.

In conclusion, while the Russian-Ukrainian conflict has created significant obstacles for the Pompe disease therapeutic area in Eastern Europe—disrupting clinical trials, straining healthcare resources, and limiting access to Pompe disease medicines—there are emerging opportunities for recovery. With renewed focus on Pompe disease treatment, alongside advocacy for rare diseases and strategic healthcare investments, the region is gradually improving. Advances in Pompe disease diagnosis and innovative therapies, including Pompe disease drugs like enzyme replacement and gene therapies, offer hope for enhanced Pompe disease life expectancy. The collaboration of healthcare providers, researchers, and policymakers will be essential to ensuring patients receive timely care and access to the best Pompe disease therapies, despite ongoing challenges.