FV 953. Parents’ Experiences during the Compassionate Use Program (Nusinersen) for Patients with Spinal Muscular Atrophy Type 1—A Qualitative Interview Study

Background: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by a progressive proximal muscular weakness. Children diagnosed with SMA Type 1 rarely live longer than 1 to 4 years. Since May 30, 2017, Nusinersen has been approved by the European Medicines Agency. Before the official approval, patients with SMA Type 1 had the opportunity to access treatment with Nusinersen within a Compassionate Use Program (CUP). Thus, effective treatment was within reach for the very first time.

Goal of the Study: Insights into the experiences of parents of children with SMA Type 1 who participated in the CUP can help to plan future CUPs in a more patient-oriented way.

Research Question: What are the experiences of parents in the CUP for SMA Type 1?

Methods: We conducted semistructured interviews with parents of children being treated within the CUP at the University Medical Center Freiburg (November 2016–July 2017, one–three interviews/family). Interviews were conducted during inpatients stays for treatment with Nusinersen, usually 4 weeks and 4 months after the initiation of treatment. Interviews were digitally recorded and transcribed. We also conducted supplementary semistructured written interviews. Data analysis followed the principles of grounded theory (Glaser and Strauss).

Results: Eight families participated in the study (average: two interviews/family, length 5–103 minutes). The parents’ children were between 2 and 28 months old. Five children received noninvasive ventilation at least at night when treatment was started.

The parents’ experiences are complex and can be categorized into three groups: (1) Hope: The availability of a novel treatment gives reason to profound hope for a better development and a longer life of the child. “My hopes may become true or not – the good thing is that it dispels the fear.” (2) Responsibility: Through the newly available treatment opportunity, parents feel an increased responsibility to make it available to their child and to minimize other health risks, for example, infections. “Now, I am even more worried than before and try to protect Marie from infections even more, make even more physiotherapy exercises. I think with this drug she has a good chance and I must not destroy it. This takes even more time and energy than before […] but somehow I can do because I have much more hope.” (3) Uncertainty: As treatment sites are limited and organizational pathways are not well established, parents are concerned that their own behavior could impede the access to treatment. “[…] as parents we didn’t really know what we should do […] ee kept quiet because we were worried we could drop out because of any minor issue.”

Conclusion: Parents act as agents of their sick children. They are exposed to a situation in which there is only little information regarding the treatment and the access to treatment sites is available. Those factors contributed to considerable uncertainties and burden for parents. A clear and transparent information strategy and a good coordination among centers offering treatment could help patients and families to participate in a CUP effectively and with a reduced psychological burden.