Global Patient Registries Can Advance Opportunities for Rare Disease Research


Collaboration and knowledge sharing amongst rare disease researchers can be difficult, as these researchers are often spread out throughout the world.

The definition of rare disease differs from one country to another. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. The World Health Organization defines rare disease as a disorder that affects less than 6.5 to 10 per 10,000 people, while the European Union narrows the definition to 5 in 10,000 people. Additionally, it is known that 80% of rare diseases have a genetic origin.1

Rare diseases affect approximately 8% to 10% of the world's population. These patients face numerous challenges that significantly impact their daily lives. The low prevalence of rare diseases and lack of awareness and understanding among health care professionals can lead to inaccurate diagnoses and diagnostic challenges, resulting in missed opportunities for early intervention and prolonged suffering. In some cases, the patient may be fortunate to receive an early diagnosis, but there may be limited approved treatment options available, resulting in many rare disease patients being treated only symptomatically.2

Further, clinical trials need a sufficient number of participants to ensure valid statistical data, but recruiting enough patients for rare diseases can be challenging. This hampers the development of evidence-based treatments for these conditions.

Another obstacle to clinical research for rare diseases is a lack of funding. Pharmaceutical companies may not be very keen to develop therapies for rare diseases due to the high investments required and low profitability given the small patient base.

Collaboration and knowledge sharing amongst rare disease researchers can be difficult, as these researchers are often spread out globally. Coordinating efforts and sharing findings can be a daunting task, hindering progress in rare disease research. Moreover, the regulatory processes for rare disease treatments can be complex and challenging to navigate, leading to delays in approvals and market access.

Notably, patient registries can be impactful when looking to address some of the challenges facing rare disease research. Patient registries are an organized system that uses observational study methods to collect uniform data in order to evaluate patient outcomes for a particular disease, condition, or exposure. Patient registries also are defined by serving a predetermined scientific, clinical, or policy purpose, such as serving as a resource for real-world data.3

Patient registries are an organized system that uses observational study methods to collect uniform data in order to evaluate patient outcomes for a particular disease, condition, or exposure. Image Credit: © vladwel -

Patient registries are an organized system that uses observational study methods to collect uniform data in order to evaluate patient outcomes for a particular disease, condition, or exposure. Image Credit: © vladwel -

Patient registries can play a crucial role in advancing rare disease research in multiple ways that can benefit patients, health care professionals, researchers, and policymakers4-7:

  • Disease Patterns and Progression: Valuable information stored in patient registries, such as patient demographics, familial characteristics, age of onset, and disease progression, helps identify patterns and prognosis, aiding in better understanding and management of the disease.
  • Easy recruitment and enhanced sample size: Collaboration between different patient registries facilitates easier patient recruitment, due to access to a larger and more diverse patient pool, which in turn can enable more robust and comprehensive studies.
  • Support for regulatory decisions:Regulators typically favor randomized controlled trial (RCT) data when evaluating medicinal products for marketing authorization. Nonetheless, there are instances where RCT data might be scarce, unethical, or impractical, especially in the context of rare diseases. In such cases, patient registry data can play a vital role in supporting regulatory decision-making. For instance, the updated guideline on Factor VIII products in haemophilia eliminates the need for clinical trials in previously untreated patients but stipulates the collection of core data elements through patient registries for post-authorization studies. This approach ensures that valuable real-world data from registries are utilized to inform regulatory decisions when traditional RCTs are not feasible or appropriate.
  • Public policy: By offering comprehensive insights into various aspects of the disease, such as prevalence, patient distribution, and health care access, patient registries aid governments and non-profit organizations in making well-informed decisions about resource allocation and shaping public policy.
  • Supportive Network: Patient registries create a supportive platform for patients and caregivers to connect, share information, discuss disease progression, explore new therapies, find specialists, and learn about clinical trial opportunities, fostering a sense of community and mutual support.
  • Government-led initiatives have been instrumental in advancing rare disease research through various means, such as promoting awareness programs to educate the public about rare diseases, offering legislative support, helping with forming patient registries, and providing grants to support research endeavours.
  • Awareness: The government is also taking steps towards spreading awareness of rare diseases through programs such as the National Institute of Health (NIH)’s GARD, which is a program that provides free access to reliable, easy-to-understand information about genetic and rare diseases. Further, public awareness campaigns like rare disease day take place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives.
  • Legislative support: A notable example of government initiative is the passing of the Orphan Drug Act in 1983. This legislation aimed to incentivize the pharmaceutical industry to invest in the development of therapies for rare diseases. It achieved this through tax incentives, market exclusivity, and exemptions from user fees. The implementation of this act led to a notable surge in research efforts focused on rare diseases.
  • Grants: The government has been allocating funds and providing grants to support research projects focused on rare diseases. These financial resources help researchers investigate the underlying causes, develop new therapies, and improve patient care. One such example is FDA-funded research. With the various funding opportunities available, FDA expects to increase the number of approved treatments for rare diseases and exert a broad and positive impact on rare disease drug development.
  • Patient registries:The government is also helping to form a patient registry for rare diseases. NIH’s National Center for Advancing Translational Research launched a rare disease registry program website to provide the rare disease community with easily accessible guidance on how to set up and maintain high-quality registries so that rare disease patient groups support and promote patient-focused rare disease research.
  • International Collaboration: There have also been international collaborations established to address the challenges associated with rare diseases. One example is the International Rare Disease Research Consortium, which has 60 member organizations from all continents, with funders, researchers, companies, and patient advocacy groups all under one umbrella. This consortium has a vision of enabling all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within 1 year of receiving medical attention.

Governments and Nonprofits Can Collaborate to Promote Successful Clinical Trials

We have seen how patient registries hold significant value for patients with rare diseases, health care professionals, and researchers. For this reason, it is crucial for governments to fund the development of patient registries and also establish standardization measures to enable seamless data sharing among different registries and research groups.

Additionally, raising awareness and populating those patient registries is a vital next step. Nonprofit companies that collaborate with patient advocacy groups can conduct outreach to encourage the participation of patients, health care professionals, and researchers. This engagement can lead to more comprehensive data which could help with medical advancement and improved patient outcomes. Through collaborating with governments, nonprofits can streamline regulatory processes for clinical trials and research on rare diseases, ensuring faster progress.8

Nonprofits can also engage with patients through patient registries, address their concerns, update the disease progression, create and promote information collaterals, conduct seminars, and keep patients abreast of clinical trials. Active participation in the registry will enable patients to recognize its value, leading to a reduction in patient drop-out rates.

The sustainability of registries is of utmost importance for their long-term development, and it can be challenging due to limited funding and support. To ensure the continued success of registries, it is essential to address these challenges effectively. Strategies to enhance sustainability may involve seeking additional funding from various sources, promoting collaborations with relevant stakeholders, and leveraging technology to streamline data entry and quality control procedures.9

By proactively tackling these issues, we can bolster the stability and reliability of registries, thereby supporting their vital role in advancing medical research, treatment evaluations, and regulatory decision-making in the long run. Such collaboration has the potential to bring immense benefit to millions of patients with rare diseases globally.

About the Authors

Harsha Rajasimha, MD, is the founder and executive chairman of IndoUSrare. IndoUSrare is a humanitarian nonprofit 501(c)(3) tax-exempt public charity organization based in the United States. Harsha Rajasimha, who lost a child to a rare disease in 2012, has been a rare disease advocate for more than 10 years. To address the unmet needs of diverse patients with rare diseases globally, the leadership team comprised of experienced professionals from research, advocacy, regulatory, and drug development seeks to build cross-border collaborations connecting stakeholders of rare diseases in low- and middle-income regions such as India, with their counterparts and clinical researchers in the United States to improve the diversity of clinical trial participants, accelerate research and development, and improve equitable access to life-saving therapies to diverse populations of rare disease patients.

Padma Rammoorthy, MD, is a medical consultant at Indo US Organisation for Rare Diseases (IndoUSrare - Over a span of 26 years, she has transitioned from clinical practice to health education and lifestyle medicine in her career. Having made significant contributions to raising awareness about maternal health in India and worldwide through her successful social start-up, she has been honored with prestigious awards such as the India Innovation Growth Program and the World Summit Award.


  1. Rabiei R. National information system for rare diseases with an approach to data architecture: A systematic review. NCBI. August 20, 2018. Accessed July 12, 2023.
  2. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome - Genome Medicine. Genome Medicine. February 28, 2022. Accessed July 12, 2023.
  3. Defining Patient Registries and Research Networks - Engaging Patients in Information Sharing and Data Collection. NCBI. Accessed July 12, 2023.
  4. Patient Registries: An Underused Resource for Medicines Evaluation: Operational proposals for increasing the use of patient registries in regulatory assessments. NCBI. July 13, 2019. Accessed July 12, 2023.
  5. “Rare Disease Day at NIH 2023 | National Center for Advancing Translational Sciences.” National Center for Advancing Translational Sciences. March 22, 2023. Accessed July 12, 2023.
  6. Funding opportunities for rare disease research. FDA. May 30, 2023. Accessed July 12, 2023.
  7. Rare Diseases Registry Program (RaDaR). National Center for Advancing Translational. Accessed July 12, 2023.,programs%20and%20stimulate%20treatment%20development.
  8. Augustine EF. “Clinical Trials in Rare Disease: Challenges and Opportunities.” NCBI. Accessed July 12, 2023.
  9. The importance of international collaboration for rare diseases research: a European perspective. NCBI. July 27, 2017. Accessed July 12, 2023.
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