The Food and Drug Administration has approved emflaza (deflazacort) to treat patients with Duchenne Muscular Dystrophy, which is a rare genetic condition that leads to muscle deterioration and weakness. This is the first time the FDA approves any corticosteroid to treat the disease.

Before the approval, patients had to get emflaza from abroad for $1,200 a year. Now, they will be able to get Emflaza tablets and oral suspensions to treat DMD. Emflaza works by decreasing inflammation and reducing the activity of the immune system. The bad news is that it comes with a high price of $89,000 a year.

Four-year-old boy with DMD. Image credit: ThinkstockPhotos.

“This is the first treatment approved for a wide range of patients with Duchenne muscular dystrophy,” said Billy Dunn, M.D., director of the Division of Neurology Products in the FDA’s Center for Drug Evaluation and Research. “We hope that this treatment option will benefit many patients with DMD.”

DMD affects about 15,000 Americans 

The FDA approved Emflaza tablets and oral suspensions for patients older than five who suffer from DMD, a rare condition caused by the absence of dystrophin which is a protein that helps keep muscle cells intact. DMD is the most common type of muscular dystrophy. Its first symptoms start when the person is 3-5 years old, and it worsens as time goes by. Individuals with this condition lose little by little their ability to perform activities on their own, and they usually require the use of a wheelchair before their 20s.

As the disease progresses, other problems come up such as respiratory conditions. People with the disease die in their 20s or 30s. DMD often appears in individuals with no family history of the condition. It is more common among boys than among girls. It affects one in every 3600 male kids worldwide. In the U.S. it affects about 15,000 people. It has been available for years in other countries, and the family of the individuals with Duchenne Muscular Dystrophy.

“Now the hope is at least all children will have access to an actual FDA-approved therapy for Duchenne,” said Craig McDonalds, a professor at the University of California. Image credit: USA Today.

$89,000 a year to treat the disease in the U.S.

Emflaza is marketed by Marathon Pharmaceuticals, headquartered in Northbrook, Illinois. With the recent approval, Emflaza hit the U.S. markets with a price tag of $89,000 a year, even when the company offers the same drug in Europe for a fraction of that cost.

The drug wasn’t previously sold in the U.S. because there was no company that would think it was profitable enough to warrant the effort of getting FDA approval. Patients have been importing the drug since the 90s, but now they will have to pay 50 to 70 times what they used to pay if they want to get it in the U.S.

A physical therapist treats a patient with DMD. Image credit: TWS.

Marathon Pharmaceutical also sought approval of deflazacort as an “orphan drug,” which is a special designation that provides incentives to assist and encourage the development of medicines for rare diseases. With the orphan designation, the company is getting seven years of exclusive rights to sell the drug in the U.S.

The FDA also granted the “rare pediatric disease priority review voucher,” that encourages the development of new drugs and treatment of rare pediatric diseases. This voucher can be used to get a drug reviewed faster; it can also be sold to other company for hundreds of millions of dollars. This is the 9th time that the FDA grants the pediatric disease priority voucher.

Effectiveness and side effects of Deflazacort

Deflazacort is the usual treatment for DMD across the world, but it is not a cure. It improves muscle strength. Its effectiveness was shown in a clinical study where 196 male patients were involved. Their ages ranged between 5 and 15 at the beginning of the trial. According to scientists, at week 12 the patients who were under deflazacort showed improvements in their muscle strength compared to those who were taking a placebo. In general, the muscle strength was maintained among those taking the drug until the end of the 52-week study. Some studies have shown that patients on deflazacort tend to lose the ability to walk later that the ones who are not treated.

Though side effects caused by the drug have been reduced over the years, they remain similar to those resulting from other corticosteroids. The most common side effects include facial puffiness, weight gain, upper respiratory tract infection, cough, increased appetite and hair growth, and excessive fat around the stomach.

As well, some patients on the drug can develop certain problems with endocrine functions, elevated blood pressure, risks of gastrointestinal perforation, skin rashes, cataracts, and susceptibility to infections. It can also lead to a reduction in the density of the bones.

Source: The Washington Post