Rare Diseases
Leveraging genetic insights to make an impact for people with rare diseases
There are over 7,000 known conditions classified as rare according to the Orphan Drug Act, but unfortunately 95% of them lack an FDA-approved treatment. Our goal is to close this gap by pursuing foundational science to further understand the genetic and biological variations of a disease. Our work in rare diseases spans multiple therapeutic areas and conditions, touching nearly every area of our research. The common thread is the genetic nature of these diseases, and the relatively small number of people impacted by such conditions.
By leveraging Regeneron-invented technologies and insights from our Regeneron Genetics Center® to further understand the root causes of disease and identify potential new therapies, we have created multiple approved and investigational medicines for people with rare and ultra-rare conditions, spanning antibody-based and genetics-based therapeutic approaches.
Following the science to find potential new medicines for certain rare diseases
At Regeneron, we pursue foundational science that can impact diseases with both large and small groups of patients. Our earliest investigational research in rare disease was for a potential treatment for aspects of cryopyrin-associated periodic syndromes (CAPS), a group of rare illnesses characterized by lifelong, recurrent symptoms of rash, fever/chills, joint pain, eye redness/pain and fatigue. In recent years, we have also developed medicines for homozygous familial hypercholesterolemia (HoFH), an ultra-rare inherited type of high cholesterol, and for CHAPLE disease, an ultra-rare hereditary disease that can cause potentially life-threatening gastrointestinal and cardiovascular symptoms.
Listening & Learning From the Rare Disease Community
Doing right for those living with unmet needs
Areas of ongoing research for rare diseases include:
Fibrodysplasia ossificans progressiva (FOP), a severely disabling, life-altering disease in which muscles, ligaments, tendons and other connective tissues are transformed into bone. Our scientists have been investigating FOP and related conditions for more than 20 years. Based on our novel discoveries about the functioning of this ultra-rare disease (with only 800 known patients in the world), late-stage clinical trials of a Regeneron-invented investigational treatment are currently underway.
Lipodystrophy, a rare metabolic disorder characterized by decreases in the quantity and distribution of body fat, which is often associated with low levels of a hormone called leptin. Low leptin leads to extreme hunger, disrupts the body’s metabolism and can cause fatty tissue to accumulate in muscles and organs such as the liver. Lipodystrophy can be inherited or acquired and affect people of all ages. We are testing a novel therapeutic approach to explore its effect on the leptin receptor that has the potential to replace the deficient hormone.