Expectations and anxieties of Duchenne muscular dystrophy patients and their families during the first-in-human clinical trial of NS-065/NCNP-01

Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and their parents within this clinical trial via an iPad survey form and through interviews regarding their understanding of the trial, expectations, anxieties, and reasons for participating in the trial. Approximately half of the participants actively decided to participate of their own volition, and none considered quitting the trial. This indicates that participants participated more positively in this clinical trial than previously expected. However, some potential concerns were also revealed, with one being that the desire to please those around them might be more important to the DMD participants than the effects of the drug. Another issue is the possibility of biased information originating from the study subjects' parents; while seven out of 10 of the parents told their children that the study drug might work, only four of these parents also explained that it might not work. Only two study participants received an explanation concerning the drug's side effects from their parents. This result implies that caution should be taken when family expectations are high, and there is a possibility that subjects will be given biased information from their parents.