Effect of Nusinersen in a late onset spinal muscular atrophy patient for 14 months

Objectives: To understand treatment patterns, healthcare resource utilization, and costs of care among patients with spinal muscular atrophy (SMA). Methods: SMA patients were identified from a large managed care population using administrative claims data from January 2006 to March 2016. Patients were classified into infantile, childhood-onset, and late-onset groups based on age of first SMA diagnosis. They were matched 1:1 to non-SMA patients based on age, gender, geography, and health plan type. Results: In the infantile group, 17.4% and 26.1% were treated with invasive and non-invasive ventilation, respectively. Uses of orthotics/orthoses and orthopedic surgery were frequent: 54.5% and 22.7% childhood group; 27.0% and 38.5% late-onset group. Mean per member per month costs in SMA vs. matched non-SMA patients was $25,517 vs. $406 (infantile); $6,357 vs. $188 (childhood-onset); $2,499 vs. $742 (late-onset). Conclusions: SMA patients, particularly with infantile onset, incurred significantly higher healthcare utilization and costs than the general population.

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Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability

Scientific Reports ◽

10.1038/srep12189 ◽

2015 ◽

Vol 5 (1) ◽

Cited By ~ 30

Author(s):

Huisheng Liu ◽

Jianfeng Lu ◽

Hong Chen ◽

Zhongwei Du ◽

Xue-Jun Li ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neurons ◽

Muscular Atrophy ◽

Spinal Muscular Atrophy Patient

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Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20130123 ◽

2013 ◽

Vol 71 (10) ◽

pp. 788-790 ◽

Cited By ~ 7

Author(s):

Victor Kosac ◽

Marcos R. G. de Freitas ◽

Frederico M. Prado ◽

Osvaldo J. M. Nascimento ◽

Caroline Bittar

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Motor Neuron Disease ◽

Late Onset ◽

Muscular Atrophy ◽

Deep Tendon Reflex ◽

Tendon Reflex ◽

Slow Progression ◽

Electrophysiological Studies ◽

Dominant Disease

Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

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