Wednesday, February 22, 2017 10:52 am EST
Each year, International Rare Disease Day is recognized on the last day of February with the goal of informing the general public about the more than 7,000 rare diseases affecting people around the world. On Tuesday, February 28, we will once again join thousands of organizations around the world to support this important day. This year’s theme for Rare Disease Day, established by EURORDIS, the founding organization for Rare Disease Day, is “Research: Bringing hope to people living with a rare disease.”
A disease is defined as “rare” in the United States when it affects fewer than 200,000 people at a given time. This relatively small population often means less scientific knowledge about the disease is available and there is less investment in research and development. Since the beginning, we have partnered with advocacy organizations to help bring a voice to the rare disease community. One of the most gratifying ways has been to be an active participant in Rare Disease Day, an event that has gained great traction in a relatively short period of time. The first Rare Disease Day took place in 2008 and involved participants from 18 countries. Just eight years later, in 2016, more than 85 countries participated in Rare Disease Day activities.
See our past Rare Disease Day activities
Research - this years’ Rare Disease Day theme - has long been at the center of our work in rare diseases. Sanofi has a robust research and development pipeline and a significant portion of that spending is concentrated on specialty care medicines, including investigational therapies for rare diseases that include Acid Sphingomyelinase Deficiency (ASMD), Pompe disease, hemophilia, Fabry disease, and hereditary ATTR amyloidosis.
Internal research is just one way that biopharma companies expand their pipeline. They also often look to forming partnerships. In today's increasingly specialized world, many new medicines reach patients because organizations recognize the importance of collaborating with other companies and research institutions. Our alliance with Alnylam Pharmaceuticals is a good example of how joining forces can strengthen our research and development pipeline in rare diseases.
Alnylam is focused on advancing novel therapeutics based on RNA interference, or RNAi - a natural process that cells use to 'turn off' or silence unwanted or harmful genes. Their pipeline consists of a diverse portfolio of investigational therapeutics for rare genetic diseases, cardio-metabolic diseases, and hepatic infectious diseases. In January 2014, we created an alliance with Alnylam to accelerate and expand the development and commercialization of RNAi therapeutics across the world. With headquarters just around the corner from us in Cambridge, Alnylam’s location is conducive for neighborly collaboration.
Currently, our alliance with Alnylam is focused in two main areas:
Hereditary ATTR Amyloidosis
The alliance is investigating the use of RNAi therapeutics for the treatment of patients with polyneuropathy due to hereditary ATTR (hATTR) amyloidosis. hATTR amyloidosis is an inherited, progressively debilitating, and often fatal disease caused by mutations in the transthyretin (TTR) gene. In patients with predominant polyneuropathy symptoms, the peripheral nervous system is impacted, leading to pain, sensory loss and muscle weakness. hATTR amyloidosis affects approximately 50,000 people worldwide. Enrollment of the Phase 3 pivotal trial was completed last year, and data are expected in the second half of 2017.
Hemophilia A and B and Rare Bleeding Disorders
The alliance is investigating the use of RNAi therapeutics for the treatment of hemophilia A and B and rare bleeding disorders (RBD). There are approximately 200,000 diagnosed patients worldwide with hemophilia A and B that result in recurrent bleeds in the joints, muscles, and other internal organs. However, it is estimated that this 200,000 represents less than fifty percent of the total hemophilia population. There exists a significant need for novel therapeutics to treat people living with hemophilia. Collaborating with Alnylam, we plan to begin Phase 3 pivotal trials later this year.
As we prepare to celebrate Rare Disease Day, we recognize the importance of both in-house R&D and the work we do with our partners. Whether with Alnylam or another company, the theme of “Research” resonates deeply in our efforts each day to discover and deliver new therapies, to be innovative, and to provide hope to patients and their families around the world.
Learn more about Rare Disease Day and the activities taking place around the world.
To recognize Rare Disease Day, we have launched a global initiative asking people to #Pledge4Rare by running or walking on Rare Disease Day - Tuesday, February 28.
Our goal is 7,000 miles pledged, in honor of the more than 7,000 rare diseases which collectively affect more than 350 million people around the world. If we reach our goal, we will make a donation to the NIH Undiagnosed Diseases Network.
Join us in support of the rare disease community and make your pledge now!
Follow us on Twitter @SanofiGenzyme to join the #Pledge4Rare conversation.