Appeal type: Experimental/Investigational
Decision: Overturned

Nature of Statutory Criteria/Case Summary: An enrollee has requested authorization and coverage for Spinraza injection treatment for treatment of the enrollees Werdnig-Hoffmann disease (spinal muscular atrophy type 1). Findings:  2/3 of the physician reviewers found that spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal motor neurons. The condition causes significant morbidity and mortality in affected children, who have profound weakness affecting the limbs and the respiratory muscles. SMA is caused by low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the SMN1 gene. Recently nusinersen (Spinraza) was approved by the Federal Drug Administration (FDA) in the United States, providing the potential for correction of SMN2 exon 7 splicing as a treatment for SMA. Nusinersen is an antisense oligonucleotide that targets intronic splicing silencer N1 (ISS-N1). Major evidence of its efficacy came from a sham controlled phase 3 clinical study, ENDEAR. The study was stopped early based on significantly favorable results in interim analysis and all the patients were transitioned to receive nusinersen in an ongoing open-label, phase 3 study, SHINE, to evaluate the long-term efficacy, safety and tolerability of the drug. At present, the medication is FDA approved for children who have the gene mutation in the SMN 1 gene such as the patient. There is no stipulated contraindication to the drug for a patient on long term ventilation. Accordingly, in this patients case, the use of Spinraza for treatment of this patients medical condition is likely to more effective than the current treatment options available. For these reasons, Spinraza injection treatment is likely to be more efficacious for treatment of this patients medical condition than any available standard therapy. Final Result: 2/3 of the reviewers determined that the requested services are likely to be more beneficial for treatment of the patients medical condition than any available standard therapy. Therefore, the Health Plans denial should be overturned. Credentials/Qualifications: Physician reviewer number one is board certified in neurology with special qualification in child neurology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number two is board certified in neurology with special qualification in child neurology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number three is board certified in neurology with special qualification in child neurology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.