Hopes, fears and beliefs about clinical trials for children with Angelman syndrome, 22q11.2 deletion syndrome and other rare genetic disorders

Abstract

Background: The rapid growth in genomic medicine has led to advances in potential treatments for a number of rare syndromes. However, little is known about what parents of children with such syndromes think and feel about these trials and their priorities for treatment. Methods: Parents of 89 children with Angelman (n = 42), 22q11.2 deletion syndrome (n = 20) and other syndromes (n = 27) completed an online survey. Questions asked about their knowledge and perspectives on clinical trials and the specific areas they feel should and should not be targeted by treatments. Results: The majority (91%) felt that clinical trials aiming to reduce symptoms associated with their child’s syndrome were positive, but there were significant differences between groups in the proportion that felt that such trials should be aiming to ‘cure’ their child’s syndrome (×2(4) = 28.9, P < .001). Although less than half of parents reported feeling at least ‘moderately’ confident in their knowledge about clinical trials, nearly half of the parents reported being keen to take part in clinical trials, even if the treatment had not been trialled in humans. Behaviour and IQ were identified as priority target areas by 33.3–45%and 15–19%of parents (respectively) across all three groups. However, other target areas were syndrome-specific, with mental health being identified as a priority by 50% of the 22q11 group and speech/communication by 73.8% of the Angelman group. Almost one-third identified personality as the one characteristic they would not want to be changed. Conclusion: This expands the limited knowledge on parent’s perceptions and priorities for treatment trials. Parents of children with rare genetic syndromes are motivated and keen to take part in trials to reduce the symptoms of their child’s syndrome, despite potentially not being fully informed of what this means. It is important that researchers, clinicians and trial coordinators work together to increase parental knowledge prior to trials commencing.