Rare disease drugmakers thought they had FDA approval to approve a therapy to treat a type of cancer that can quickly turn deadly. However, the US FDA surprisingly rejected their request. Only 5% of all known rare diseases have approved treatments. Regulatory bodies such as the EMA and FDA have established legislation, regulations and policies to support orphan drug research and development, including fee waivers, protocol assistance and market exclusivity. Standard HTA focuses on efficacy, safety, cost-effectiveness and budget impact, which creates challenges for reimbursement of expensive drugs for rare diseases with uncertain effectiveness. In Europe, approximately 30 million people suffer from a rare disease, with the disease affecting no more than 5 out of 10,000 inhabitants, and half of the cases are in children. In Slovakia, patients receive such drugs in the form of categorization or exceptions, while this year for the first time the court ordered the insurance company to pay for the drug.