Supporting Research to Find Cures for Rare Diseases

Continued support and medical innovation is needed to improve the lives of patients with rare diseases.

February 28, 2018 marks the 11th annual Rare Disease Day, dedicated to raising awareness of the impact of rare diseases worldwide. This year’s theme – research – highlights the many advances that have been made in the treatment of rare diseases, while emphasizing remaining research gaps.

This year, and every year, Celgene joins with the many supporters of Rare Disease Day as we all strive toward the ultimate goal: cures.

A rare disease is one that affects fewer than 200,000 individuals in the United States and less than one in every 2,000 in Europe. As a whole, though, rare diseases are hardly insignificant; there are approximately 7,000 different rare conditions affecting more than 300 million people globally.

Over the decades, regulatory initiatives have helped to encourage more innovation and the generation of much-needed therapies for these patients. The U.S. Food and Drug Administration’s (FDA) Orphan Drug Act of 1983 spurred significant progress by creating incentives for research and allowing for expedited approval of new therapies. While fewer than 10 treatments for rare diseases were approved from 1973 to 1983, more than 400 medicines and biologic products for rare diseases have been approved since the Act was passed.

More recently, provisions of the 21st Century Cures Act of 2016 have helped to streamline FDA review of rare disease therapies. And in December 2017, the Rare 2030 pilot program was adopted by the European Commission to research sustainable policies, address challenges and identify opportunities in the field of rare diseases from 2020-2030.

And yet despite these efforts, approved therapies are available for only five percent of rare diseases. Clearly, we still have a long way to go for these patients.

With clinical trials in more than 45 rare cancers and immuno-inflammatory diseases, Celgene recognizes the significance of medical innovation to address these often overlooked diseases. Celgene’s research efforts center on patient need, including rare diseases.

Clinical trials are key to making progress, but for rare diseases, enrolling a clinical trial can be a challenge, given the limited number of patients. To find the most patients that can participate in a trial, Celgene believes a critical first step involves carefully examining and engaging the appropriate trial locations, for instance, by establishing a presence in countries where a rare disease is more common.

Driven by patient and physician insights, Celgene also leads research efforts that go beyond traditional trial programs. For instance, the Journey Pro app, launched by Sage Bionetworks with financial support from Celgene, uses patient-reported data collected through mobile and wearable technologies to help quantify the daily burden of chronic anemia, which affects patients with rare diseases such as myelodysplastic syndromes, myelofibrosis and beta-thalassemia. The app provides direct and immediate information to research participants to help them manage their health, with a long-term goal of developing a tool to evaluate new treatments.

In multiple myeloma, Celgene has collaborated with the UAMS Myeloma Institute and Dana-Farber Cancer Institute to create the Myeloma Genome Project, a global initiative compiling the largest set of genetic profiling data associated with clinical outcomes. The Project aims to develop a genetic classification system, and eventually, relevant tests for genetic mutations that could improve the diagnosis and prognosis of multiple myeloma while driving more personalized, targeted approaches to treatment.

In addition to these and other research endeavors, Celgene’s collaborative efforts with patient and professional advocacy organizations through the Patients’ Partners program, launched in 2011, explore new ways to strengthen patient support from diagnosis through treatment.

As research efforts in rare diseases continue to expand across the healthcare ecosystem, the progress being made drives Celgene to keep pushing forward in an effort to deliver new solutions that may improve patients’ lives.