A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms may not appear until later in life. A disease or disorder is defined as rare when condition affecting fewer than 200,000 individuals in the United States (per FDA’s Orphan Drug Act (ODA)) or with a prevalence of <5 in 10,000 (or 1 in 2000, Orphan Drug Regulation 141/2000) in the EU/EEA. In the EU, for example, some rare diseases may affect only a handful of patients and are called ultrarare, whereas other more prevalent rare diseases affect as many as 245,000 patients in the region.
Relatively common symptoms, normally associated with common diseases, can obscure the underlying rare diseases, leading to delayed diagnosis or even misdiagnosis.
The target population for Mangoral, the investigational contrast agent being studied in the SPARKLE study, is approximately 1 in 10,000. This patient group with known or suspected focal liver lesions, and severely impaired kidney function, therefore, constitutes a rare population.
There are more than 6000 rare diseases. Overall, rare diseases may affect 30 million European Union citizens. 80% of rare diseases are of genetic origin and are often chronic and life-threatening.
Rare diseases not only affect the person diagnosed – they also impact families, friends, care takers and society as a whole.
An individual rare disease may affect only one person in a million, but all together, rare disease patients comprise 6% to 8 % of the EU population.
An orphan drug designation is a regulatory incentive for pharmaceutical companies to develop drugs for small patient populations.
Ascelia’s investigational new drug (Mangoral, a manganese based contrast agent) is the first contrast agent in the world to obtain Orphan Drug Designation by the FDA for use in liver MRI in patient groups where use of gadolinium-based contrast agents may be medically inadvisable, or where gadolinium-based contrast agents cannot be administered. These patients are at risk of Nephrogenic Systemic Fibrosis (“NSF”)*, a serious and potentially fatal condition caused by prolonged exposure to gadolinium-based contrast agents (“GBCA”) in patients with renal impairment. Most of the contrast agents available in the market are GBCAs and are the current standard for MRI contrast agents.
*Nephrogenic systemic fibrosis (NSF) A serious condition involving fibrosis of skin, joints, eyes, and internal organs.