New medical opportunities for children with spinal muscle atrophy: a study of the experiences of families and healthcare professionals

Spinal muscle atrophy, SMA, is an inherited muscle disease. Approximately 100 children are currently living with SMA in Sweden. The disease has three levels of severity, types I, 2 and 3, where type I is the most severe form. There is currently no cure for any form of SMA, although new drugs are rapidly being developed and showing promising results.

Treatment with nusinersen, Spinraza, has shown good results in drug trials and is now available in Sweden. However, there is a lack of knowledge about how families regard these new medical opportunities and how they deal with them. The situation is also new for healthcare professionals whose experience is therefore limited. More knowledge is needed to be able to support families facing these decisions; this research study is expected to contribute such knowledge.

The aim of the study is to gain increased knowledge about how families, parents, children, other family members and healthcare professionals experience new medical opportunities. Do they choose to try the new treatment or not? Are the children involved in the decision? How are the child’s life and the family’s life affected? How do healthcare professionals experience the new treatments that are offered? Does it place new expectations and demands on them?

All parents of children with SMA aged 0-18 years living in Sweden will receive a request to participate in the study, regardless of whether the child receives or does not receive treatment with nusinersen, Spinraza. The child with SMA and their siblings can also participate in the study. In addition, the parents have the opportunity to invite the grandparents to participate.