Rare Disease Registries: Unlocking Real-World Evidence for More Than 30 Years
Rare disease research presents unique challenges due to the small size of the populations of people living with these conditions. Collecting and curating large study populations in rare diseases presents a real problem, which can limit understanding of the clinical spectrum of disease. The Sanofi Rare Disease Registries represent more than 30 years of real-world data collection from across the global rare disease community. Today, real-world evidence from the Registries has resulted in more than 100 peer-reviewed publications to increase understanding of disease and therapies with the goal of improving patient care and outcomes. Click here to read a recent publication.
The Rare Disease Registries represent the valued participation of thousands of people with Gaucher, Fabry, Mucopolysaccharidosis I (MPS I), and Pompe diseases. The Registries include more than 900 participating sites with more than 1,000+ health care professionals around the globe. International and regional Boards of Advisors with scientific and clinical expertise provide direction and the Registries Patient Council, a group of local and global patient advocacy leaders, provide guidance directly from the rare disease community.
We’ve talked to several of our employees who have contributed to the success of these disease registries, which have helped to fill a critical void that clinical trials cannot, and here is what they had to say.
As the Head of Epidemiology & Biostatistics for the Registries, the most rewarding part of my role is having a direct impact on people living with a rare disease, mainly by supporting cutting-edge treatment decision-making that can improve lives in the rare disease community through publications and medical congress activities.
Julie Batista, ScD
Head of Epidemiology & Biostatistics, Rare Disease Registries Global Medical Affairs
Overcoming Barriers
Q: How do disease registries help overcome common challenges in the rare disease space?
The Registries hold the largest ongoing collection of long-term data on people living with Gaucher, Pompe, Fabry, and MPS I disease. The Registries not only strive to overcome the challenges of small numbers of individuals available for quality analyses, but also provide a wide spectrum of in-depth information collected over a long period of time (from years to decades). This type of rich data source allows us to answer key research questions and fill knowledge gaps that ultimately will improve the lives of people living with a rare disease.
A Passion For Research
Q: What are some of the most notable accomplishments for patients during your time on the Registries team?
We are all passionate about our roles and strive toward the common goal of improving the lives of individuals affected by rare diseases. Data from the Registries have been used to fulfill numerous commitments set by regulatory agencies (such as the FDA and EMA), allowing continued access to therapies in certain countries.
As the lead Global Medical Director, I oversee Fabry Registry activities including external facing Board of Advisors Meetings, establishing priorities for data collection and analysis, and addressing unmet needs for natural history and patient treatment outcomes in the Fabry disease field.
Elvira Ponce, MD, MSc
Senior Medical Director, Global Medical Affairs Rare Nephrology
Setting A Goal For Success
Q: How would you describe the overall mission of the rare disease registry program?
The mission of the Rare Disease Registry Program is to provide HCPs, patients, and researchers a collaborative platform where carefully collected and curated real-world global data of larger patient cohorts is used to advance the understanding of rare diseases and disease treatment outcomes.
Serving Patients
Q: How does the work you do help rare disease patients across the world?
With the input of key opinion leader medical advisors, Fabry Registry epidemiology and biostatistics, and Programming and Medical communications colleagues, I help prioritize literature gaps and develop scientific questions. By doing so, I help answer what is still unknown, and then shepherd that research through to presentation and publication.
As Head of Data Management for the Rare Disease Registries, my group is responsible for ensuring that the data collected in the Rare Disease Registries are high-quality, reliable, and statistically sound.
Jean P. Foster, MPH
Director, Data Management Global Rare Disease Registries, Specialty Care
Making Work Meaningful
Q: What do you find to be most rewarding about your role?
The most rewarding aspect about my role is being able to make data collection more efficient. The Registries are always evolving to simplify and to embrace new technologies. We just implemented electronic patient reported outcomes (ePRO) and I am excited for patients to be able to directly enter their own data and feel a greater sense of participation.
Glimpse Into The Future
Q: What do you hope the future brings for the disease registry program?
I am excited to explore opportunities such as integrating electronic medical record (EMR) data, data from wearables (e.g., fitness trackers/watches), and data from motion/video capture apps. I believe these new methods of data collection will help further improve the lives of patients with rare diseases.
As the Global Operations and Advocacy Lead for the Rare Disease Registries, I have the privilege of working for and with the rare disease community in our Rare Disease Registry Patient Council. Engagement with global and local patient advocacy leaders is critical to strengthen and deepen the impact of real-world data and evidence.
Danielle Dong, ScM CGC
Global Operations and Advocacy Lead Rare Disease Registries
Be In The Know
Q: What is something you want people to know about the disease registry program?
The Registry is so much more than just a database. It is about people: individuals living with rare diseases; their caregivers and those that love them, health care providers who dedicate their professional lives to improving care, and Registry team members who are committed to making the lives of those with rare diseases better every day by working tirelessly on the program.
Inspired Collaboration
Q: What inspired you to become a part of the registry program?
As a genetic counselor, I have worked with people living with rare diseases and their families and have been a witness to the feelings of isolation that a diagnosis can bring. During my time in working with families in their clinical care, I saw how offering enrollment into a registry could be a reminder to individuals and families that they are not alone.
Rare Disease Registries
The real-world data collected over the past 30 years by the Sanofi Rare Disease Registries have been critical to building the scientific community's knowledge of rare diseases, opening doors for data and insights that have led to additional advancement of diagnosis, development of innovative treatments, and clinical management improvement for people living with these extremely rare conditions. The Rare Disease Registries have generated data published in more than 100 peer-reviewed manuscripts.
~ 68
~ 18,000
~ 130,000
Learn More About The Rare Disease Registry
A lasting impact of the Sanofi Rare Disease Registries is the creation of a global community that did not exist 30 years ago. As more and more people join the registries, that legacy will continue to grow for years to come.
Anyone impacted by a rare disease is encouraged to become part of this global collaboration that is contributing to finding answers to the unmet needs of today and tomorrow.
Explore more
How Registries Accelerate Rare Disease Research
