Duchenne Muscular Dystrophy - Ask The Pharmacist

Sep 1, 2015

In honor of Duchenne Awareness Day, Express Scripts specialist pharmacists provide information for understanding the condition, treatment and new therapies on the horizon.

Tags
  • Children
  • Teenagers
  • Male

Approximately one in every 3,500 boys is born with Duchenne Muscular Dystrophy (DMD). A progressive genetic disorder that weakens the muscles, DMD forces most patients to use a wheelchair by 12 years of age. Continuing deterioration of muscle tissue, including in the heart and lungs, usually causes death in the late 20s or early 30s.

Understanding the Condition

Duchenne Muscular Dystrophy is a rare, genetically inherited condition. It is one form of a family of diseases that affect the function of the muscles in the body.

The condition is X-linked, meaning that it affects males almost exclusively. DMD is caused by mutations in the dystrophin gene, which codes for a protein key to muscle strength and coordination. In DMD, the mutations in dystrophin cause it to have very little activity or not be present at all, resulting in earlier onset, faster progressing and more severe disease compared to other types of muscular dystrophy (such as Becker’s Muscular Dystrophy).

Though skeletal muscle is affected early in the disease, these conditions are associated with progressive cardiac muscle disease (cardiomyopathy) as well.

DMD leads to early loss of ambulation in the teen years due to progressive muscle wasting and weakness. Few boys with DMD survive beyond their mid to late 20s. Accidental falling is the most common cause of limb fractures in boys with DMD, and nearly half of lower-limb fractures result in permanent loss of ambulation.Most will also become ventilator dependent, as respiratory muscles are also affected.

Treatment for Duchenne’s Muscular Dystrophy

In the U.S., the only currently-available drug treatments for DMD manage disease complications, but do not treat the underlying cause. A mainstay of therapy is steroids, which delays disease progression and improves respiratory function. The first drugs that treat the underlining cause of DMD may receive U.S. Food and Drug (FDA) approval in late 2015 and early 2016.

A comprehensive care plan that includes physical therapy, respiratory therapy, surgical consult, nutrition/speech/swallowing therapy, occupational therapy, psychosocial evaluation, and medication therapy is necessary for optimal outcomes.

Concurrent therapies used in patients with DMD include:

  • Corticosteroids to assist with skeletal muscle and pulmonary function
  • Heart failure therapies such as ACE inhibitors, beta-blockers and other anti-hypertensives
  • Anti-secretory therapies such as H2 antagonists, antacids and proton-pump inhibitors
  • Constipation management
  • Anti-depressants
  • Vitamin D and bisphosphonates (when indicated) to assist with bone loss

New Therapies on the Horizon

Several new therapies for Duchenne’s could dramatically change the course of treatment for patients with the condition. These include mutation correcting therapies, which increase the amount or function of dystrophin, as well as new supportive care options such as, steroid and heart failure therapies validated in the Duchenne’s population. While these investigational agents are not curative, they do abate functional decline and improve quality of life. Some newer therapies may require specialized distribution and clinical services. Express Scripts and Accredo are committed to offering compassionate, superior care to those affected by rare diseases, such as DMD.

Treatment Pipeline

Supportive Resources

Due to the overwhelming physical, social and financial burden caused by DMD, patient care requires a holistic and multidisciplinary approach.

Within Accredo’s Rare Disease Therapeutic Resource CenterTM, pharmacists, nurses, social workers, certified pharmacy technicians, program managers and patient care advocates work together on disease-focused teams. This disease-specific expertise meets patients with rare diseases and their families where they are, providing patient-centered services that optimize outcomes.

For non-specialty medications, Express Scripts offers several ways to make keeping track of medications easier for caregivers including:

  • Worry-free refills
  • Pharmacy care alerts to help you follow your prescribed treatment plan
  • On-the-go drug information via the Express Scripts mobile app

Those providing supportive care can help through education, empathy and advocacy. Here are a few tips:

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