Equitable Care, Accelerated Timelines: Expanding Global Access to Rare Disease Research

Written by:
Rachel Smith, Vice President, Rare and Genetic Diseases, Parexel

For Rare Disease Day 2026, the international rare disease community is calling for equitable treatment and care access — and that includes access to clinical trials. Since more than 95% of rare diseases have no approved treatment, clinical trials are a crucial care option for the 400 million people who live with a rare disease.

Unfortunately, geographic disparities make it difficult for patients in some regions to participate in potentially life-changing research.

Clinical trials, including those for treatments for rare diseases, have long been concentrated in North America and Western Europe and more recently in East Asia — areas that figure prominently into regulatory and commercial strategies for most sponsors. According to the World Health Organization (WHO), from 1999 to 2025, the United States led all other countries in clinical trials, with more than 197,000 registered studies — nearly 20 percent of all trials registered during that time. China had the second most, with more than 162,000 registered studies. Combined, the countries of Germany, the United Kingdom, France, the Netherlands, Spain, and Italy had more than 282,000 registered studies. Because these areas are becoming saturated with clinical trials, overburdened sites are less willing to accept smaller or competing trials. We are also seeing decreasing enrollment rates and slow startup timelines, especially at large research institutions, where rare disease specialties are most concentrated.

Global expansion is one solution to this challenge. By expanding studies into emerging regions — including Africa, Eastern Europe, Latin America, and the Middle East — sponsors can accelerate development timelines while also bringing clinical trials as care options to places in which few or no other treatment possibilities exist. When sponsors expand into emerging regions, they can:

• Reach treatment-naive populations, which is increasingly difficult to do in North America and Western Europe.
• Accelerate study enrollment. Regions with a low volume of clinical research offer larger overall patient pools, making recruitment faster and easier.
• Study subpopulations of patients with diseases that have geographic, ancestral, and/or ethnic genetic variations. For instance, amyotrophic lateral sclerosis (ALS) is associated with more than 50 genes with multiple pathogenic variations per gene, the prevalence of which can vary significantly by region.¹ Expanding into new global regions can open up potential new target populations for researchers.
• Study treatments for diseases linked to specific geographies. One example is Bechet’s disease, which is approximately 400 times more prevalent in Northern Turkey than in the U.S. or other parts of Europe.
• Generate more complete data. Locating studies in underrepresented regions can lead to variant-specific treatment responses that might have otherwise gone undetected. For example, in cystic fibrosis, the label for ivacaftor was expanded multiple times — from a single target mutation in the CFTR gene to 28 target mutations — as additional ivacaftor-responsive mutations were identified through real-world data.²

Each one of these advantages can contribute to greater scientific insight and help bring a therapy to market faster, which is important for both sponsors and the patients they seek to help.

When Parexel’s rare disease experts recommend locating studies in emerging regions, we often hear concerns about experience and quality. We have seen firsthand, however, how diligently many counties are working to establish environments in which research can thrive. Lithuania, for example, has prioritized comprehensive ICD-10 coding for diagnoses, which significantly streamlines the process of identifying and recruiting patient populations. In both Ghana and Botswana, many top institutions have implemented clinical trial infrastructure and training to earn sponsor confidence. Another fantastic example is the country of Georgia. With startup timelines as short as six weeks, Georgia has a strong rare disease infrastructure supported by its Ministry of Labor, Health, and Social Affairs, as well as expert centers and the Georgian Alliance for Rare Diseases. In many trials, it has been one of our top enrolling countries, with sites that adhere to exceptionally high standards, as evidenced by many successful EMA, FDA, and sponsor inspections. In our experience, sites in emerging regions often enroll patients far faster than their more established counterparts, and we see exceptional quality in their operations and data.

We recognize that emerging regions may lack experience, particularly with rare disease research. Sites in these countries, however, have often conducted high-value research in other therapeutic areas. For example, infectious disease research has been incredibly successful in regions of Africa. In such cases, the necessary talent and infrastructure are already in place, and it’s our job as sponsors and CROs to help emerging sites apply their experience to new therapeutic specialties.

When expanding into an emerging region, our first step should always be connecting with local patient advocacy groups. These leaders have knowledge and networks that will be crucial to success. Partnering with advocacy leaders will allow us not only to identify patients faster but also to earn their trust. Local leaders are also the right people to help us:

• Connect with health care professionals whose experience matches the needs of a study.
• Navigate local regulatory landscapes and, when needed, advocate for change.
• Understand and address cultural considerations that could impact the success of research efforts.

We also recommend pairing research-naive sites with experienced CRAs. If researchers have limited experience in the rare disease space, seasoned CRAs can guide the site team through many process-related challenges. An involved CRA can also help mitigate risk related to data quality and compliance.  For emerging investigative sites looking to build their capabilities, a program like Parexel’s Next Generation Site Scholarship can provide mentorship and training resources to help develop the skills and processes needed for successful study execution.

Finally, when working in underrepresented areas, we must plan to address patient needs even after study completion — especially for countries in which a sponsor does not intend to market its product. In such cases, it will be essential to design and receive approval for an expanded access program so patients can continue to receive treatment after completion of the clinical study to which they contributed.

In its recent Global Action Plan for Clinical Trial Ecosystem Strengthening, the WHO calls for cooperation among all stakeholders to build and support an international ecosystem that can consistently identify safe, effective therapies for the populations most in need. North America, Western Europe, and East Asia will always be important to rare disease research, but by expanding into new regions, we will contribute to this vision set out by the WHO.

Through global research, we can reach more patients faster and improve care equity in the process, helping achieve what the WHO requests in a 2025 resolution: global cooperation to advance “equitable and timely access to affordable, safe, effective and quality medicines for all persons living with a rare disease across the world, leaving no one behind.”

References

1. Mejzini R, Flynn LL, Pitout IL, Fletcher S, Wilton SD, Akkari PA. ALS genetics, mechanisms, and therapeutics: where are we now? Front Neurosci. 2019 Dec 6;13:1310. doi: 10.3389/fnins.2019.01310. PMID: 31866818; PMCID: PMC6909825.
2. McKinnon C, Thorat T, Craft A, Higgins M. Real-world impact of ivacaftor in people with cystic fibrosis and select ivacaftor-responsive mutations. BMJ Open Respir Res. 2024 Jul 29;11(1):e002033. doi: 10.1136/bmjresp-2023-002033. PMID: 39074961; PMCID: PMC11288149.