Spinal Muscular Atrophy denials in California external review

What the reviewers wrote

Where the denial was overturned

Physician 1: The patient is a three-year-old male with spinal muscular atrophy and a history of multiple hospitalizations for pneumonia and atelectasis. He is G-tube dependent and has difficulty with oral secretions. He has been treated with multiple aerosols as well as the Cough Assist machine, the Vest system and oral suctioning. He cannot tolerate chest physical therapy (CPT) because he is resistant to postural drainage. At issue in this case is whether the Vest system is likely to be more beneficial for treatment of the patient’s medical condition than any available standard therapy.This patient will require aggressive pulmonary disease preventative treatment for life. He is resistant to postural drainage treatment and has done well with the Vest system.

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for genetic tests: Bloom syndrome, dihydrolipoamide dehydrogenase deficiency, familial hyperinsulinism, Fanconi anemia C, Gaucher disease, glycogen storage disease type 1A, Joubert syndrome, maple syrup urine disease, mucolipidosis type IV, nemaline myopathy, Niemann-Pick disease, spinal muscular atrophy, Usher syndrome type IF, Usher syndrome type III and Walker-Warburg syndrome for evaluation of the enrollee who underwent prenatal genetic testing. Findings: The physician reviewer found that the submitted documentation supports the medical necessity for a portion of the services at issue in this clinical setting. The American Congress of Obstetricians and Gynecologists (ACOG), notes that certain disease conditions are more prevalent in individuals of Eastern European Jewish descent.

Where the denial was upheld

Nature of Statutory Criteria/Case Summary: The parent of an enrollee has requested authorization and coverage for the medication Spinraza.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 also the respiratory muscles. SMA is caused by low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the SMN1 gene. An almost identical gene SMN2, present on the same chromosome, produces a smaller, truncated protein (SMN2) because of skipping of exon 7 from translation due to translation silent C6U substitution in exon 7 of SMN2 pre-mRNA transcript. Only 10% of the SMN2 mRNAs produce full length SMN2 protein by including exon 7 in healthy individuals.

Nature of Statutory Criteria/Case Summary: An enrollee has requested authorization and coverage for a whirlpool tub (HCPCS K1003).Spinal muscular atrophy (SMA) is a neuromuscular disease resulting in degeneration of alpha motor neurons in the anterior horn of the spinal cord and lower brainstem. SMA is clinically heterogeneous and has classically been categorized into 3 clinical subtypes based on age at onset and severity of symptoms, ranging from a most severe subtype (type 1) where patients rarely survive beyond infancy without respiratory support, to a least severe subtype (type 3) where there is ambulation at some point in life that is eventually lost due to disease progression. Kolb and Kissel state that many patients elude a precise subtype classification.

These outcomes describe eligible cases completed through California DMHC’s Independent Medical Review program. They do not estimate the chance that an internal appeal, an external review in another jurisdiction, or your individual case will succeed. Use the record to identify evidence patterns involving spinal muscular atrophy, then check the rights and deadlines that apply to your plan.