World Duchenne Awareness Day

September 7 is World Duchenne Awareness Day. Read below to learn more about the day, the costs associated with having Duchenne muscular dystrophy, and the accessibility of treatments.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a neuromuscular condition with a prevalence of 1 in 3,500 male births. It  is caused by mutations in the dystrophin gene that cause the patient to produce little to no dystrophin. Dystrophin is a protein that protects muscle fibers from breaking down, so the absence or deficiency of dystrophin caused by these mutations leads to muscle weakness and loss. It affects all muscle types, leading to loss of mobility and eventual respiratory and cardiac failure.

About World Duchenne Awareness Day

World Duchenne Awareness Day (WDAD) takes place on September 7 (7/9) because there are 79 exons in the dystrophin gene. Red balloons are used as the symbol of WDAD, and to commemorate this day, people around the world release thousands of red balloons into the sky. Every year, there is a theme for World Duchenne Awareness Day; this year’s theme is ‘Women and Duchenne.’

What is the cost of living with Duchenne?

A 2013 study conducted by Jane Larkindale et al. found that the average annual cost of treating a Duchenne patient is $50,952. This translates to $787 million annually for all patients in the United States. As symptoms progress and the patients require more interventions, the costs only increase. Oftentimes, insurance companies will cover some of these fees, including doctor’s visits and some prescription drugs. However, private insurance companies are currently unable to pay for therapeutics that don't have a Biologics License Application (BLA) or New Drug Application (NDA). For rare ultra-rare diseases that impact very few people, it is possible that any therapeutics that are developed to treat these conditions will never be commercially approved. 

Accessibility of Duchenne treatments

A significant challenge that remains when it comes to drug development for rare and ultra-rare disorders is the cost: many organizations and families who are impacted by these diseases do not have the means to raise the $3 million or more that are required to advance a therapeutic program on their own. CRD has been in discussion with private and public payers, and a possible solution to this problem that CRD will continue to explore is engaging the Centers for Medicare and Medicaid Services. Through collaborations with academic and industry partners as well as support from donors, CRD is currently able to develop life-saving therapeutics for families who otherwise would not have been able to afford them.

Duchenne Therapies in the Pipeline

CRD currently has 14 therapeutic development programs that target mutations in the dystrophin gene that cause Duchenne. These therapies are in multiple stages of development, ranging from phase 1 (characterization of mutation) to phase 5 (clinical trial). Last month, CRD announced approval from the FDA to administer a first-in-human CRISPR-based therapeutic for the treatment of Duchenne. Learn more about our progress with these 14 therapeutics here.

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