Today, the Pharmaceutical Research and Manufacturers of America (PhRMA) released “A Decade of Innovation in Rare Diseases,” which highlights 10 years of progress in understanding rare diseases and drug development resulting in groundbreaking therapies.
According to the report, more than 230 new medicines to treat rare or “orphan” diseases were approved by the U.S. Food and Drug Administration (FDA) in the last decade, and there are currently more than 450 orphan drugs in development.
The report looks at treatment advances in the past decade in five rare diseases that have led to improvements in patient survival and quality of life: chronic myelogenous leukemia (CML), chronic lymphocytic leukemia (CLL), pulmonary arterial hypertension (PAH), hereditary angioedema (HAE), and cystic fibrosis (CF). The report also explores other rare conditions where major milestones transformed treatment —including several in which first–ever treatment options have become available to patients.
Key findings include:
- Targeted therapies can now effectively treat many of the recently identified mutated forms of CML and allow for treatment plans tailored to each patient’s particular genetic profile.
- Novel targeted therapies treat the root cause of CLL, resulting in lasting remissions and new treatment options for even the sickest patients.
- New treatments go beyond symptom management to treat the underlying cause of PAH, allowing patients to maintain active lifestyles with reduced risk of serious heart events.
- New discoveries in the underlying cause of HAE have led to breakthroughs in both preventative and acute treatment options for patients, including those targeting the root cause of the disease.
- CF patients now have new treatment options allowing for better management of symptoms as well as a new option which allows many to target the underlying cause of their disease. If mortality rates continue to decline, patients may now hope to live into their 50s.
Thirty million Americans, or one in ten, and an estimated 350 million people worldwide are currently living with a rare disease, which is defined as a condition that affects fewer than 200,000 people. There are currently 7,000 known rare diseases and approximately 80 percent are caused by genetic abnormalities. However, despite incredible progress made against rare disease in recent years, only 5 percent have available treatment options.