Patient Registries: Key to Accelerating Rare Disease Research

Patient Registries: Key to Accelerating Rare Disease Research

Research and development of orphan drugs is time-consuming and costly, and appropriate participants for clinical trials are hard to find. Efficiently connecting rare disease patients with the right clinical trials is a crucial step toward discovering efficient, effective treatments for this population.

THE NATIONAL Institutes for Health (NIH) says there are more than 10,000 identified rare diseases affecting an estimated 30 million people in the United States.1 According to the Centers for Disease Control and Prevention (CDC), a rare disease is one that affects fewer than 200,000 people; CDC estimates that of the 30 million people affected, about half are children.2

What’s more, the United States Food and Drug Administration (FDA) says fewer than 10 percent of known rare diseases have an FDA-approved treatment available.3

These three government statistics do not paint a very encouraging picture for patients who suffer from rare diseases. Thousands of lives would be positively impacted by orphan drugs (medicines prescribed to treat rare diseases), but the research required to discover and market those drugs is painfully slow. To get more of them approved by FDA and into the hands of the people who need them, research into rare diseases and possible treatments for them must be accelerated. However, for research to be accelerated, rare disease patients need to get involved in clinical trial registries — and that’s historically been easier said than done.

Harsha Rajasimha, PhD, understands this problem on a personal level: He suffered the loss of a child to a rare congenital disorder and a brother to a chronic disease. But his years of post-doctoral training at NIH and FDA, as well as his work in the healthcare and life science industry and his service as chairman of the annual Indo US bridging RARE Summit where he works to bring stakeholders together to address challenges, puts him in a unique position to bridge the gap between rare disease patients and clinical trials.

As the founder and CEO of Jeeva Clinical Trials, Dr. Rajasimha is working to accelerate access to treatments for rare and chronic diseases by eliminating bottlenecks in the clinical trial process with the Jeeva eClinical Cloud, an AI-driven platform that accelerates clinical trial timelines, realizes electronic data capture efficiencies and conducts remote clinical outcome assessments of participants in therapeutic areas such as oncology, rare diseases and chronic conditions. We interviewed Dr. Rajasimha to discuss why patient registries like this are key to accelerating rare disease research.

What Are the Current Obstacles Faced in Rare Disease Research?

“One obstacle is the limited understanding of the natural history of a rare disease,” explained Dr. Rajasimha. “The often intricate nature of rare diseases makes it challenging to gather comprehensive data, hindering the development of targeted therapies. Another obstacle is the often misdiagnosis or delayed diagnosis of a rare disease. The lack of awareness among healthcare providers about rare diseases can result in diagnostic odysseys for patients, delaying the initiation of appropriate treatments. The rarity of these diseases compounds the issue, as healthcare providers may not encounter such cases frequently, leading to a lack of familiarity.”

How Has the Government Helped in the Research of Rare Diseases?

“Government involvement is integral in the commercialization of FDA-approved drugs, making them accessible as patients who have rare diseases rely on the government for access to and affordability of drugs,” said Dr. Rajasimha. “These government initiatives underscore a commitment to knowledge exchange and accessibility, aligning with the evolving landscape of healthcare technologies and minimizing disparities in the research of rare diseases.”

How Can Government Organizations and Nonprofits Collaborate for Successful Clinical Trials?

“The provision of funding, where government organizations allocate budgets and nonprofits contribute financial support, reduces the financial burden on researchers and institutions,” explained Dr. Rajasimha. “Collaborations foster the establishment of patient registries, a critical component for successful clinical trials. By pooling data from diverse sources, including government health records and nonprofit-supported initiatives, researchers gain access to comprehensive and representative datasets. This facilitates participant recruitment, ensures diverse representation and improves the generalizability of trial results.

“Joint initiatives also enhance knowledge-sharing and capacity-building. Government research institutions and nonprofits can organize workshops, conferences and training programs to promote a culture of collaboration and continuous learning within the research community.”

How Can Patient Registries Help in the Research of Rare Diseases?

“Patient registries serve as centralized repositories of comprehensive patient data,” said Dr. Rajasimha, “offering a collective understanding of the natural history, progression and diverse manifestations of rare diseases. This wealth of information facilitates the identification of patterns, contributing to a deeper comprehension of these conditions.

“Researchers actively seeking to enroll participants for clinical trials often turn to such registries to identify their target populations. Patient registries enhance patient identification and recruitment for clinical trials and research studies. The rarity of these diseases often leads to challenges in assembling a sufficiently large and diverse study population. Registries streamline the recruitment process by providing a centralized platform where eligible participants can be identified and engaged, accelerating the pace of research.”

Why Are Patient Registries Key to Accelerating Rare Disease Research?

“Patient registries enhance the identification and recruitment of individuals with rare diseases for clinical trials and research studies. Given the limited number of patients with a particularly rare condition, accessing a centralized database streamlines the process of finding suitable candidates, saving valuable time and resources. This accelerates the initiation and completion of research studies” said Dr. Rajasimha. “These registries enable the identification of specific subpopulations that may respond differently to treatments, identifying factors influencing treatment outcomes. This allows for targeted and personalized approaches by not only enhancing the precision of medical interventions, but also contributing to the development of more equitable healthcare solutions.”

Why Is It Important for Patients to Participate in Clinical Trials?

“Participation in clinical trials offers patients access to cutting-edge therapies and interventions that may not be available through standard treatments,” said Dr. Rajasimha. “This presents a unique opportunity for patients with rare diseases to explore potentially more effective options that could enhance their quality of life.

“Clinical trials often involve close monitoring and comprehensive healthcare assessments, ensuring that participants receive a high standard of medical care. This level of attention can lead to early detection of health issues, allowing for timely interventions and personalized treatment adjustments for patients.”

Steps Patients Can Take to Find Clinical Trials

Actively participating in a clinical trial as a rare disease patient can be more than empowering — it could also potentially be life-changing. Following are some actionable steps to get started:

  • Engage with patient registries. Patient registries are invaluable tools for connecting patients with clinical trials. These databases collect detailed information about patients affected by rare diseases and often include trial recruitment notices. Patients can explore registries specific to their disease and consider enrolling to stay informed about relevant trials.
  • Explore disease-specific registries. There are disease-specific registries such as the National Organization for Rare Disorders and Global Genes for comprehensive listings of trials relevant to a patient’s rare disease. Patients can consider enrolling in registries such as the Rare Diseases Clinical Research Network or patient-powered platforms such as Patients Like Me to stay informed about ongoing trials and research opportunities tailored to their specific rare disease.
  • Seek guidance. Patients should not hesitate to reach out to healthcare providers, patient advocacy organizations or support groups for guidance. They can offer insights into available trials, assist with navigating enrollment processes and provide emotional support throughout a patient’s journey.
  • Utilize online platforms. Patients can take advantage of online platforms and forums dedicated to rare diseases. These communities often provide information about clinical trials, share personal experiences and offer support to fellow patients and their caregivers.
  • Consider genetic testing. Genetic testing can provide valuable insights into the underlying causes of rare diseases and may lead to opportunities for patients to participate in clinical trials targeting specific genetic mutations. Patients can discuss genetic testing options with their healthcare provider to explore potential eligibility for relevant trials.

Patient Registry and Clinical Trial Resources

Patients can keep themselves updated on ongoing clinical trials relevant to their rare disease. These websites provide important information on patient registries and clinical trials:

  • is a U.S. government website listing of all past, active and upcoming clinical trials globally. All U.S. clinical trials involving new treatments or drug repurposing are required to be listed in this portal.
  • NIH Genetic and Rare Diseases Information Center ( offers a free patient information service for families battling rare diseases.
  • Indo US Organization for Rare Diseases ( offers a free patient concierge service via email, SMS, telephone or video call from anywhere in the world. Patients, or authorized family members of patients, can submit a request for assistance on their online concierge portal.
  • Organizations such as IndoUSRare ( invite rare disease patients and caregivers from across the world to join in creating awareness of rare diseases. For caregivers, IndoUSRare has teamed up with RareGivers in supporting their journey. Through initiatives such as IndoUSBridging Rare Summit, hosted each year alternately in India and the United States, patients, caregivers and stakeholders are brought together to join in accelerating the engagement of the global rare disease community in orphan drug research and development. IndoUSRare provides highly informative and educational sessions and presents great networking opportunities.
  • Global Genes has a RARE concierge service ( that any patient can request for free assistance globally.
  • Contract research organizations (ClinicalResearchNews set up concierge services for patients, specific to a sponsored clinical trial, as approved by a biopharmaceutical sponsor.
  • Using Google to search for patient registries and clinical trials can be useful when using the name of a specific rare disease. However, search results must be filtered and evaluated for credibility, security, privacy and data-sharing concerns.

Get Involved!

There is still much work ahead to discover and distribute viable treatment options for the millions of Americans living with rare diseases. The good news is patients can be part of the solution! By actively participating in clinical trials, patients are not just contributing to scientific research, but they are also playing a vital role in advancing treatments and improving outcomes for their own rare disease, as well as for rare disease communities worldwide.


1. National Institutes of Health. Genetic and Rare Diseases Information Center. Accessed at
2. Roth, A. Research for Rare Disease: Giving Hope to Families Who Are Searching for Answers. National Children’s, Feb. 24, 2022. Accessed at
3. U.S. Food and Drug Administration. Rare Disease Cures Accelerator, May 16, 2022. Accessed at