Shining a Light on Rare Diseases: A Call to Action

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Feb 28, 2025

Shining a Light on Rare Diseases: A Call to Action

Rare diseases, by definition, affect a small number of people compared to more common illnesses. Yet, the collective impact of these conditions is staggering, affecting an estimated 300 million people worldwide ¹—a number greater than those impacted by cancer and HIV/AIDS combined. Despite their name, rare diseases are far from rare in their prevalence, and they demand our attention and action.

Behind these numbers are real people facing immense challenges; 70% of rare diseases present in childhood¹, and one in three children with a rare disease won’t live to see their fifth birthday. Children and adults affected by rare diseases battle isolation and limited access to care, compounding the physical and emotional toll of living with these conditions.

Rare Disease Day², observed on February 28, provides a platform for patients, families, caregivers, researchers, and advocates to unite in their shared mission: equal access and advancements in diagnostics and treatments. It’s also a day to reflect on the unmet needs of rare disease communities and inspire action.

Challenges in Rare Disease Diagnosis and Treatment

Rare diseases are difficult to diagnose and treat. On average, it takes patients six to eight years to receive a correct diagnosis¹. This diagnostic odyssey is often marked by misdiagnoses, repeated medical visits, and frustration.

Advancements in genomic technology, such as whole-genome sequencing, have offered hope by making earlier and more precise diagnoses possible. But this progress is only part of the solution. The next step is treatment—and that’s where the challenges multiply.

Today, 95% of rare diseases have no approved treatment options. The journey from research to availability is fraught with obstacles, including high development costs, small patient populations, and limited incentives for pharmaceutical companies.

The Orphan Drug Act, signed in the United States in 1983, aimed to address this issue by providing financial incentives for companies to develop treatments for rare diseases. Since its enactment, hundreds of orphan drugs have been approved³, offering hope to millions. Yet, gaps remain.

The clinical trials process, which is vital for bringing new treatments to market, presents unique challenges for rare diseases. Smaller patient populations and the cumbersome process of attending study appointments make recruitment challenging, especially for children or individuals with disabilities who often rely on caregivers. Traditional trial designs often assign patients to placebo arms, denying them access to potentially life-saving treatments, which adds to the difficulty of recruitment and retention.

Medidata, a leader in clinical trial technology, has been at the forefront of addressing these challenges. By pioneering decentralized trials with remote technologies like a Patient app, virtual visits, and electronic consent to reduce travel and simplify participation, along with patient-centric workflows and synthetic control arms, Medidata is transforming the way rare disease research is conducted. Synthetic control arms, for instance, use anonymized data matches from past trials to replace the need for placebo groups. This innovation not only ensures that every patient in the trial has a real chance to receive treatment, but also reduces the number of participants needed for a study. It’s a game-changer for rare disease research, accelerating the path to new therapies and reducing the burden on patients and families.

Additionally, Medidata has launched the Medidata Research Alliance, a scientific research consortium bringing together leading clinician-researchers and key opinion leaders from academia, non-profit organizations, and the life sciences industry to leverage Medidata’s expertise in AI capabilities and clinical trial data to drive cutting-edge research into innovative treatments. The Medidata Research Alliance’s core mission is to advance medical breakthroughs for patients through the power of data and collaborations with academic physician-scientists. It’s through these partnerships that we can bridge insights from aggregated clinical trial data into clinical practice.

A Path Forward: Hope Through Collaboration and Innovation

The journey to address rare diseases requires a collective effort. From governments, healthcare providers, and industry to researchers, patients, and advocates, everyone has a role to play.

Innovation in treatment strategies is providing hope. Advances in gene therapy, for example, are offering new possibilities for patients with genetic rare diseases. These groundbreaking therapies have the potential to correct underlying genetic defects, offering a chance at a better quality of life. But these treatments are often prohibitively expensive, highlighting the need for policies that ensure affordability and accessibility.

Another critical area of focus is improving the quality of life for patients and their caregivers. Living with a rare disease can be financially and emotionally draining. Frequent medical appointments, hospitalizations, and the lack of effective treatments contribute to psychological distress for both patients and their families. Caregivers often face financial hardship as they reduce work hours or leave the workforce to provide care. Support systems and community resources are essential to address these challenges and foster resilience.

Medidata’s commitment to the rare disease community goes beyond technology. By involving patients in the design of clinical trials and ensuring their voices are heard, Medidata is setting a new standard for patient-centered research. Medidata’s generative AI solutions and access to the world’s largest high-quality clinical data set are enabling faster, more efficient studies. In 2024 alone, 72% of FDA-approved drugs ran on Medidata’s platform, underscoring the impact of these efforts.

Rare Disease Day reminds us of the progress made and the work that lies ahead. For the millions of people living with rare diseases, the path forward is filled with both challenges and hope. Together, we can ensure that no one facing a rare disease feels forgotten.