Dados do Trabalho

Título

Motor Functional follow-up of two Spinal Muscular Atrophy patients treated with gene therapy

RESUMO

Introduction: Children with 5q-Spinal Muscular Atrophy (SMA) have predominantly axial muscle weakness, which directly impacts the acquisition of motor milestones.
Objective: To demonstrate motor improvment of two children with SMA, one was among the first patients to receive a single dose of gene therapy (GT) in Brazil and another was one of the oldest in the world to receive the therapy.
Methodology: Assessment of motor functions using the CHOP-INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) and HFMSE (Hammersmith Functional Motor Scale Expanded for SMA) motor scales before GT and after 3 and 20 months of treatment, respectively.
Case reports: The first case is a male, with SMA type II receiving GT at age of 7 years and 11 months olg, and with 8 years and 3 months old at time of last evaluation. The patient had already been using nusinersen for 5 years. Before treatments, the patient was evolving with loss of motor functions such as rolling. At the beginning of nusinersen treatment he scored 14 points on the HFMSE scale, and after 5 years of treatment (before receiving GT) he scored 24 points. The child continued to roll over and became able to move from a sitting to a lying position with the use of nusinersen. After 3 months of GT he increased the score to 26 points and started to assume the crawling posture and became more agile in the motor functions that he had already acquired. He had gains in basic activities of daily living such as dressing.
The second case is one of the first Brazilian children, a female with SMA type I, to receive GT at 1 year and 11 months old, and is currently 3 years and 8 months old. With the previous use of nusinersen, she acquired head control, ability to sit without support and to roll over. Regarding motor assesments in scales, the patient scored 08 to 16 points on HFMSE after 3 months of GT, and scored 25 points after 20 months of treatment. Currently, she walks with hip support and stands with support for a few minutes.
Conclusion: patients treated with GT showed improvement in motor function even if they were treated previously with nusinersen.

Palavras Chave

spinal muscular atrophy; SMA; gene therapy; CHOP-INTEND; HFMSE.