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10 Rare Diseases and Prescription Drugs

The drugs business is one of the most lucrative business in the world. The business of developing and selling medications is a huge industry, with companies bringing in billions in revenue every year. The highest-priced drugs have one thing in common i.e. they all treat rare and dangerous diseases.

Here below ten rare diseases and drugs on our list all cost around $200,000 a year for the average patient who takes them. Most of them treat rare genetic diseases that afflict fewer than 10,000 patients.

10 Rare Diseases and Drugs - Most Costly Medical Treatments
10 Rare Diseases and Drugs – Most Costly Medical Treatments


Glybera is a gene therapy drug that treats adult patients diagnosed with familial lipoprotein lipase deficiency (LPLD). This drug, developed by Dutch pharmaceutical company Uniqure. LPLD is a rare genetic disorder that causes a large amount of fat to build up in the blood. Uniqure won European approval for Glybera in 2012. In 2015, Glybera become the most expensive drug in the world. The cost for this medication is over $1.2 million a year.

Glybera not approved in the United States, Americans don’t have access to the drug, though. It is used in Europe to treat rare disease familial lipoprotein lipase deficiency, a condition affecting just 1,200 people in Europe and one million worldwide.


Shire Pharmaceuticals’ Elaprase ($375,000 per year), another prescription drug used to treat Hunter Syndrome and Cognitive Impairment (specific genetic conditions). It is an extraordinarily rare condition affecting just 500 people in the United States that inhibits brain function and physical development.

10 Rare Diseases and Drugs - Most Costly Medical Treatments
Rare Diseases and Drugs

Just 500 Americans suffer from the disease, which causes infections, breathing problems and brain damage. Generic name of Elaprase is idursulfase (Pronunciation: EYE dur SUL fase).

Read: 32 FDA Recalls Prescription Drugs – FDA Activities and Concerns


Actimmune (manufactured by Horizon Pharma), is a biologically manufactured protein known as interferon gamma, which is similar to a protein made naturally by the human body. This drug used to treats two rare genetic diseases,

  1. Severe, malignant osteopetrosis (SMO)
  2. Chronic granulomatous disease (CGD).

Interferon gamma helps lower the risk and severity of infections in individuals with CGD and can slow the worsening of SMO in patients.


Lumizyme helps people with pompe disease, a genetic disorder caused by the buildup of a sugar called glycogen in the body’s cells. Pompe disease is one of the rare diseases occur in one out of every 40,000 live births. However, the frequency in the African-American population is higher, at roughly one in 14,000 births. Lumizyme replaces a missing or deficient enzyme in people. The drug is marketed by French drugmaker Sanofi.


Naglazyme from BioMarin Pharmaceuticals, another drug in this list of rare drugs and diseases. It is used to treat Maroteaux-Lamy Syndrome, a condition that affects connective tissues. Common symptoms include dwarfism, inhibited development, heart issues and brain damage.
Viropharma predicts that sales of its Cinryze, a treatment to prevent a dangerous swelling of the face, will increase from $95 million last year to $350 million several years from now. The drug costs an estimated $350,000 a year.

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