Research for rare diseases can be time-consuming since it only affects a small part of the population. Statistics suggest that it can vary between a few weeks and a decade, depending on the type of disease. 

That’s because it’s hard to find willing volunteers during the clinical trials. Hence, it can take a long time for the prescription medications to reach the patients. 

The process can also be risky because if anything fails, the whole research can be shut down. Similarly, the medical industry cannot use traditional standards to treat rare diseases. Due to this, the financial burden on researchers amplifies, especially when the number of patients affected is low. 

These unfortunate instances lead to surging drug prices that can reach millions. For example, Hemgenix, a drug used to treat a rare bleeding disorder, hemophilia B, costs USD 3.5 million per dose. 

In this blog, we will discuss three expensive FDA-approved drugs and their side effects. 

#1. Tepezza for Thyroid Eye Disease (TED)

TED activates the orbital fibroblasts by producing autoantibodies that fight against thyroid receptors. This rare autoimmune disease only affects 19 in 100,000 people every year. Also known as Graves’ disease, this disorder causes a patient’s extraocular muscles to enlarge and increases the fatty tissue volume.

In February 2020, a drug manufactured by Horizon called Tepezza took the medical industry by storm. Even with a price tag of USD 14,900 per vial, this drug became crucial in the treatment of Graves’ disease. 

Even though Tepezza didn’t cure TED, it helped reduce inflammation, double vision, and bulging eyes in patients. For many, this drug became a relief because TED had affected their daily lives. 

However, they soon experienced various side effects. These include partial or permanent hearing loss, tinnitus, increased sound sensitivity, etc. Upon further investigation, patients and doctors found that the manufacturers knew about the Tepezza side effects. 

As a result, victims filed a Tepezza hearing loss lawsuit, alleging failure to warn and medical negligence. Hence, Horizon Therapeutics is under scrutiny for its failure to advise, educate, and instruct Tepezza users and doctors about the side effects. Anyone who received at least one infusion of Tepezza can file a lawsuit. 

According to TorHoerman Law, this ongoing litigation aims to hold Horizon Therapeutics responsible for the medical expenses and personal injuries caused. The legal industry believes the average payout per person can be more than USD 100,000.

#2. Elaprase for Hunter Syndrome

Hunter syndrome is an uncommon disease that affects 1 in every 100,000 to 170,000 male children. This happens due to a genetic mutation that doesn’t let the affected patient’s body digest some sugar molecules. 

As a result, it builds up in tissues and organs over time, affecting the child’s mental and physical development. When that happens, they develop stiff joints, thickened facial features, hearing loss, an enlarged liver, etc. 

In 2006, Elaprase, manufactured by Takeda Pharmaceuticals, became the only enzyme replacement therapy to treat Hunter syndrome. The cost of this intravenous solution is USD 3,312 for 3 milliliters. Even though Elaprase isn’t a cure, proper dosages and physical therapy can improve a patient’s walking ability.

However, this drug comes with some common and some severe side effects. Examples include difficulty breathing, seizures, swelling of the face or throat, and hives. In some cases, this drug use can also lead to allergic reactions like itching, mild skin rashes, and coughing. Only a few patients have reported blurred vision, eye pain, heart problems, and severe headaches. 

#3. Lumizyme for Pompe Disease

According to the Cleveland Clinic, Pompe disease is a rare inherited condition that affects only 1 in every 40,000 people. A patient with this disease will have an abnormal glycogen or complex sugar buildup in lysosomes. 

This occurs when patients lack acid alpha-glucosidase (GAA), a digestive enzyme. Pompe disease leads to severe muscle cramps, weakness, shortness of breath, heart problems, and tiredness.

Back in 2010, Genzyme Corporation released Lumizyme to help treat this disease. This intravenous powdered medication is priced at USD 995 for 50 mg. 

When used correctly, this drug can provide an ongoing source of the missing digestive enzyme. While Lumizyme cannot cure Pompe disease, it can surely reduce its effects. 

Unlike Horizon Therapeutics, Genzyme Corporation was upfront about the potential side effects of using this drug. For instance, they warned that some patients might have allergic reactions shortly after the infusion. These include rashes, tingling sensations, itching, and redness. 

In some cases, the patients might feel light-headed and have abnormal cardiac rhythms. They can also develop severe headaches, have pale skin, and have trouble breathing. 

The Way Forward

According to Summit Health, rare diseases are challenging to treat due to a lack of knowledge and unpredictable side effects. Hence, it’s hard to convince drug companies, investors, and researchers to spend time and money on the development of medicines. 

Even with the Orphan Drug Act of 1983, most rare disease research simply seems unprofitable for big pharmaceutical companies. WebMD reports that 30 million people in America suffer from a rare disease, while 10,000 of them are unrecognized. In a survey involving 148 families, 62.2% said they cannot afford treatment for rare diseases. 

To make the prices affordable, research companies can maximize the returns they get from R&D expenditures by focusing on remote participation. Moreover, they should consider getting orphan drug status for the medicines to gain tax credits. Only then can medications for rare diseases become affordable.