Respiratory parameters before and after commencement of Nusinersen, v1
Research type
Research Study
Full title
Respiratory parameters before and after commencement of Nusinersen in Children with Spinal Muscular Atrophy (SMA) in a tertiary UK paediatric respiratory and neurology centre
IRAS ID
318214
Contact name
Kelechi Ugonna
Contact email
Sponsor organisation
University of Leeds
Duration of Study in the UK
0 years, 4 months, 1 days
Research summary
Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and therefore problems with movement. This serious condition gets worse over time. The time of onset of symptoms depends on the type of SMA, of which there are three main types in children
- Type 1 usually is seen in babies less than 6 months of age, and is the most severe form of SMA
- Type 2 usually is seen in babies from about 7 – 18 months and is less severe than type 1
- Type 3 tends to be seen after 18 months of age, and is the least severe form of SMASymptoms of SMA include muscle weakness in the trunk and limbs, which can lead to tremors, bone and joint problems like scoliosis (curvature of the spine), difficulties with swallowing, and difficulties with breathing. SMA does not affect intelligence.
There is no cure for SMA. However, recently, the outcomes for children with SMA has improved due to early diagnosis and early intervention with treatment strategies which focus on exercises and assistive equipment which help to optimise movement and breathing, nutritional status, adjuncts, or surgery to improve spine and joint function. In the last few years, new drugs for treating SMA have emerged, and one of such drugs is Nusinersen. Research has demonstrated that this drug improves the muscle function of children with SMA. We aim to study the effects that this improved function also has on the lungs of children with SMA.
REC name
Wales REC 7
REC reference
23/WA/0226
Date of REC Opinion
29 Aug 2023
REC opinion
Further Information Favourable Opinion