How Registries Accelerate Rare Disease Research

Patients who share their experience contribute meaningfully to scientific advances

Living with a disease that is poorly understood can be difficult and frustrating for patients and their families, and for the clinicians who care for them. This is especially true for rare diseases, where small patient numbers, incomplete knowledge of the illness, and the lack of diagnostic expertise globally can pose significant obstacles. But disease registries can help overcome these challenges and even propel the development of new treatments. 

“Sanofi has a long history of developing therapies for orphan diseases, and recognized the power of disease registries early on," said Joseph Bender, Head of Global Rare Disease Registries at Sanofi. "With such geographically distributed groups of patients, it was clear that collecting real-world data about their health experiences and outcomes in one place would be invaluable to research. Because of that pioneering vision, registries have now become a cornerstone in advancing new therapies. They represent real-world findings from many thousands of people living with rare diseases, and the physicians who treat them, over the course of many years."

Sanofi Rare Disease Registries are the home for real-world findings from nearly 15,000 people living with rare diseases. They have helped researchers publish studies describing the underlying biology of disease, identify risk factors impacting treatment outcomes, and share guidelines for monitoring and treatment.

The power of patient registries

Voluntary patient registries are secure, organized databases that aggregate health, wellbeing, and medical care information from individual patients with a specific disease over many years–even decades. A patient's healthcare provider can add information such as disease signs and symptoms, measures of health and disease progression, clinical assessments, and treatments as well as patient-reported outcomes and health survey data.

Because people living with rare diseases are not concentrated in any one part of the world, contributing information about their experiences in a central resource has been a major boon to research. It also cultivates a sense of the broader community’s needs. 

“We are deeply grateful to patients for sharing their medical journeys with us,” said Julie Batista, Director of Epidemiology and Biostatistics for Rare Disease Registries at Sanofi. “We certainly wouldn’t understand rare diseases nearly as well as we do today without the contributions of the rare-disease community.”

Sanofi sponsors Rare Disease Registries spanning four diseases, including Gaucher, Fabry, Mucopolysaccharidosis I (MPS I), and Pompe. All four are global collaborations, representing input from patients and physicians in over 60 countries. Since 1991, when the first Sanofi rare disease registry was established, the registries have grown to represent one of the largest collections of real-world data for rare diseases. They enable registry researchers to look deeply into the data shared by an individual patient, and to find commonalities among all people worldwide with the same rare condition.

Advancing Fabry disease R&D

Sanofi’s Fabry Registry has been tracking patient journeys since 2001, providing valuable insights into the long-term impact of the disease and fueling ongoing research. Comprising over 7,000 people with Fabry disease, it is an unparalleled source of patient real-world data.