When it comes to clinical research, no two studies are exactly alike—but rare disease trials stand in a category of their own. Though each condition may affect only a small number of people, together rare diseases impact an estimated 300 million patients worldwide. For these individuals and families, research often represents the only pathway to new treatments or hope for the future. That’s why rare disease trials are both uniquely challenging—and uniquely important.
What Defines a Rare Disease Trial?
A rare disease is typically defined as a condition that affects fewer than 200,000 people in the United States. While each rare disease impacts only a small patient population, there are more than 7,000 identified rare diseases—together affecting millions of people worldwide. Clinical trials play a critical role in advancing care, since for many rare diseases, no FDA-approved treatment options currently exist.
At Tekton, our team of central nervous system (CNS) experts is conducting trials for several complex rare conditions, including Dravet Syndrome and Lennox-Gastaut Syndrome. These studies are essential to understanding how new investigational therapies can improve quality of life for patients and families who often face limited options.
Rare disease trials differ from studies in more common conditions because of the unique challenges involved—such as smaller patient populations, more complex diagnoses, and a lack of established treatment pathways. But every successful study brings the potential to deliver breakthroughs that make a lasting impact.
Key Challenges in Rare Disease Trials
Rare disease studies face hurdles that set them apart from traditional trials:
Small Patient Populations
With so few people affected, finding eligible participants is one of the biggest challenges. Recruitment often requires casting a wide net across multiple sites or even multiple countries.
Complex Diagnoses
Many rare diseases, like Dravet Syndrome or Lennox-Gastaut Syndrome, can take years to diagnose. Symptoms may overlap with other conditions, leading to delays in identifying eligible participants for trials.
Limited Awareness
Patients, families, and even physicians may not know about available trials. This lack of awareness can slow enrollment and limit access to potentially life-changing therapies.
Regulatory & Logistical Hurdles
Rare disease studies often require creative trial designs, such as adaptive protocols or decentralized approaches, to make participation possible. At the same time, smaller patient numbers can mean longer timelines and higher costs.
These barriers can make progress feel slow, but they also highlight why research in this space is so important.
Opportunities in Rare Disease Research
Despite the challenges, rare disease research offers incredible opportunities to transform lives and push science forward:
Advances in Precision Medicine
Genetic testing and targeted therapies are unlocking new approaches to rare conditions once thought untreatable.
Strong Patient and Advocacy Involvement
Rare disease communities are often tightly knit and deeply motivated. Patients and families bring urgency and passion to research efforts, helping to drive studies forward.
Regulatory Incentives
Programs like the FDA’s Orphan Drug Designation and accelerated approval pathways help encourage innovation and speed access to therapies for small patient populations.
Innovation in Trial Design
From patient registries to wearable technology, researchers are developing smarter ways to collect meaningful data and include more patients, even across geographic boundaries.
Together, these opportunities reflect a growing momentum in rare disease research—one that brings hope not only to the individuals directly affected, but also to the broader field of medicine. Breakthroughs in rare diseases often pave the way for advancements in more common conditions, extending the impact even further.
Physician Perspectives
In reflecting on the unique impact of rare disease studies, Dr. Amor Mehta, Principal Investigator at Tekton Research’s Marlboro site, emphasized the life-changing potential of this work.
“Rare disease trials are some of the most challenging, but also the most rewarding, studies we conduct. For patients with conditions like Dravet Syndrome or Lennox-Gastaut Syndrome, research is often the only pathway to new therapies. At Tekton, we’re able to bring cutting-edge neurology research to patients by combining advanced tools—such as video EEG and specialized imaging—with a highly experienced team. Every study moves us closer to improving care and changing lives for patients who have long been underserved.”
– Dr. Amor Mehta, Principal Investigator, Tekton Research Marlboro
“Having spent many years in research, I’ve seen firsthand how rare disease trials require creativity, persistence, and collaboration. While these studies can be complex, the opportunity to provide patients with therapies that didn’t exist before is incredibly rewarding.”
What This Means for Patients
For patients and families affected by rare diseases, clinical trials represent more than research—they represent possibility. In many cases, trials are the only pathway to access new therapies or to explore treatments where none currently exist.
Every participant who joins a study helps move science forward, not just for themselves but for the entire rare disease community. Even small trials can generate data that leads to FDA approvals, sparks new lines of research, or improves understanding of how a condition develops over time.
At Tekton, our CNS experts and research teams are committed to providing patients with access to trials in conditions such as Dravet Syndrome and Lennox-Gastaut Syndrome. By working hand-in-hand with patients, families, and advocacy groups, we aim to advance knowledge, improve care, and expand treatment options for those who need them most.
The Future of Rare Disease Research
Rare disease trials are different—marked by unique challenges but also extraordinary opportunities. Recruiting small patient populations, navigating complex diagnoses, and designing flexible protocols require determination and collaboration. Yet the rewards are immense: new hope for patients, stronger partnerships with families and communities, and groundbreaking scientific discoveries that often extend beyond rare conditions themselves.
As we look to the future, one thing is clear: the path forward in rare disease research will depend on innovation, persistence, and the shared commitment of patients, physicians, and researchers alike. At Tekton, we are proud to play a role in this journey—helping bring new possibilities within reach for patients everywhere.
