Spinal muscular atrophy (SMA) is an autosomal recessive inheritance disease. Patients with SMA are born with a deficiency of survival motor neuron 1 gene (SMN1), which means their bodies cannot produce SMN protein normally, resulting in the degeneration of α motor neurons, as well as progressive muscle atrophy, weakness, and paralysis, making it a fatal genetic disorder.
Currently, there are three types of treatments available: gene therapy, spinal injection, and oral medications. The NHI coverage for the latter two were limited to patients who score 15 or above on the Revised Upper Limb Module (RULM). However, the Pharmaceutical Benefit and Reimbursement Scheme Joint Committee Meeting convened in June approved a relaxation of these restrictions on SMA drugs. Approximately 218 additional patients are now eligible for the NHI coverage for these medications. The newly approved measures are as follows:
- Broadening the eligibility from "diagnosed before the age of 3" to "diagnosed before the age of 8."
- Removing the requirement of RULM score of 15 or above as initiation condition; and
- Allowing one switch to another medication if severe intolerance occurs with nusinersen or risdiplam.
Once the NHI coverage is expanded on August 1, it is estimated to add an additional NT$1.9 billion in the NHI expenditure each year. Each patient should be able to save over NT$6 million per year in medication costs.