Abstract
Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored. We aimed to investigate physicians' opinions and perceptions toward management strategies of SMA across Saudi Arabia. This is a cross-sectional survey using a self-administered, structured questionnaire sent to physicians who care for SMA patients during the Saudi Pediatric Neurology Society annual conference. A total of 72 clinicians of different neurological subspecialties were included. 48.6% prescribed nusinersen to their patients, with 39% of them having patients started on nusinersen. Though, 8.3% prescribed onasemnogene abeparvovec for 1–3 patients, while none of their patients started on the treatment. 64.3% stated that the only treatment available for SMA in their settings is supportive care. Around 69.4% described having a moderate to high knowledge on SMA gene therapy, and 79.2% would recommend it. 48.6% confirmed they would prescribe gene therapy at the age of 6 months, and 78.3% would prescribe it for type-I SMA. Pediatric neurologists are receptive to novel and innovative therapies for SMA in Saudi Arabia. However, the high treatment acquisition cost, strict regulations, logistical issues, and budget constraints delay their adoption and implementation.
Highlights
Spinal muscular atrophy (SMA) is a major autosomal recessive neuromuscular disorder [1]
The SMA pathophysiology is believed to be due to mutations in the survival motor neuron 1 (SMN1) gene [9], which most commonly lead to deletions, in turn causing a deficiency of SMN [10]
Of the 72 respondents, 43 (59.7%) were males, 63.9% were consultants, and 63.9% specialized in pediatric neurology
Summary
Spinal muscular atrophy (SMA) is a major autosomal recessive neuromuscular disorder [1]. SMA causes motor neuron degeneration in the brain stem and spinal cord, leading to progressive muscle weakness and atrophy [2]. It is rare, with an estimated incidence rate of 4–10 per 100,000 newborns [3,4,5,6,7], it has the highest mortality rate among affected children compared to other genetic diseases [8]. The SMA pathophysiology is believed to be due to mutations in the survival motor neuron 1 (SMN1) gene [9], which most commonly lead to deletions, in turn causing a deficiency of SMN [10]. The frequency of the carrier that causes SMN1 mutations ranges from 1 in 90 to 1 in 47 [5,6,7]
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