Rare diseases affect small groups of patients and are often life-threatening or causing chronic disability. In total there are about 7,000 known rare diseases but only about 400 approved treatments.
A rare disease affects a small percentage of the population, and is often serious, life-threatening or chronically debilitating. Many rare diseases appear early in life and while nearly all genetic diseases are rare, not all rare diseases are genetic. Most genetic diseases are present throughout a person’s life, even if the symptoms do not appear immediately. There are also very rare forms of infectious diseases, such as auto-immune diseases and cancers. To date, the cause remains unknown for many rare diseases.
In Europe and North America alone, an estimated 60 million people are impacted by one of approximately 7,000 known rare diseases. Each disease is, in itself, rare but, together, rare diseases affect 1 in 14 people.
Although more and more therapies are becoming available, the majority of rare diseases are without treatment. Treatments for rare diseases, which could be orphan drugs, medicinal products, or in the US devices, are agents used to diagnose, treat and prevent rare diseases. These drugs have paved the way for treatments for many of the unmet Clinical and therapeutic needs in patients with rare diseases.