Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Genetic Diseases. 
Treatment: Pharmacy/Prescription Drugs. 

The insurer denied Amondys 45 (casimersen). 
The denial is overturned. 

The patient is a male who was diagnosed with Duchenne Muscular Dystrophy (DMD). He had been noted to have difficulty walking between 1-2 years of age. Calf pseudohypertrophy was present at diagnosis. His creatine phosphokinase (CPK) level was elevated at 60,000. Genetic testing showed a deletion in the dystrophin gene at exons 46-47. 

A neuromuscular clinic note is incomplete, but the updated history indicates that the patient is still able to walk. He is followed by a cardiologist and pulmonologist, and his cardiac and pulmonary function are reportedly normal. He does not have any spine symptoms, diabetes, or osteoporosis. He attends school, and excels at art. He is an Eagle scout. His medications include prednisone, enalapril, famotidine and fluticasone nasal spray. He lives with his parents. His neuromuscular specialist has prescribed Amondys 45 (casimersen), an exon 45 skipping medication, given that the patient's dystrophin deletion is amenable to treatment with the medication. 

At issue is the medical necessity of Amondys 45 (casimersen). 

The health plan's determination of medical necessity is overturned in whole. 

The requested health service/treatment of Amondys 45 (casimersen) is medically necessary for this patient. 

Based on the United States Food and Drug Administration (FDA) approval of casimersen for the treatment of patients with Duchenne Muscular Dystrophy (DMD) who have a mutation amenable to exon 45 skipping, Amondys 45 (casimersen) weekly infusions are medically necessary for the patient's condition. 

The patient has DMD, a progressive and ultimately fatal neuromuscular degenerative disorder. He has a dystrophin mutation which is amenable to treatment with casimersen (Amondys 45). The medication is FDA approved for treatment of patients who have a dystrophin mutation amenable to exon 45 skipping. The drug has been demonstrated to increase levels of dystrophin in muscle, giving the reasonable expectation of clinical benefit, although study results regarding clinical efficacy have not yet been published.
Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disease affecting approximately one in 3,500-5,000 boys. [1] The disorder is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding for dystrophin, a cytoskeletal protein that stabilizes the plasma membrane of muscle fibers. Most treatments currently available for DMD are palliative, aimed at prolonging the boys' ability to walk, improving breathing and cardiac function. Treatment with corticosteroids has been found to be the most effective option for patients, resulting in improved muscle strength, prolongation of the ability to walk, and better pulmonary function. However, corticosteroids only delay disease progression, and treatment is associated with significant side effects, including weight gain, osteoporosis, and cataracts. [2] 

Wagner et al [5] reported that casimersen was well tolerated in participants with DMD amenable to exon 45 skipping, "Most treatment-emergent adverse events were mild, nonserious, and unrelated to casimersen." In its announcement of accelerated approval of the drug, the FDA stated "The FDA has concluded that the data submitted by the applicant demonstrated an increase in dystrophin production that is reasonably likely to predict clinical benefit in patients with DMD who have a confirmed mutation of the dystrophin gene amenable to exon 45 skipping. A clinical benefit of the drug, including improved motor function, has not been established." [6] 

Therefore, the requested health service/treatment of Amondys 45 (casimersen) is medically necessary for this patient.