Parents of children with Angelman syndrome think gene therapy trials to find a cure should be a priority and should focus on neurological symptoms as well as communication and motor skills, an online survey reveals.
Compared to a group of parents of children with different genetic conditions, parents of children with Angelman had more confidence in their understanding of gene therapy methods, related medications, and their ability to access information about new treatments.
The results of the survey were published in the American Journal of Medical Genetics, in the study “Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.”
Angelman syndrome is caused by the loss of function in the UBE3A gene due to mutations or chromosomal changes, which primarily affects the nervous system.
Gene therapies represent a promising strategy to prevent or treat the disease by replacing the defective UBE3A gene with a healthy copy to slow or stop disease progression.
These therapies would target children primarily; that’s why understanding the thoughts and feelings of family members about genetic therapeutic options is critical.
Researchers based at Griffith University in Australia invited parents of children with Angelman syndrome to participate in an online survey comprising multiple-choice and short-answer questions covering three general topics related to gene therapies for their children.
The team also invited parents of children with other rare genetic disorders as a comparison to help distinguish concerns specific to parents of children with Angelman syndrome.
First, demographic information about the child and the family were collected, including age, sex, diagnosis, and genetic mutation, relationship to the child, schooling, and salary information.
A total of 42 parents of children with Angelman, and 27 parents of the comparison group, completed the survey. Most of the children were younger than 15, and mothers were the primary respondents.
Parents’ views on clinical trials were gathered, such as beliefs about their importance, views on reducing their child’s symptoms and finding a cure, participation in clinical trials, and confidence in their knowledge of the disease and treatments.
Almost all parents in both groups reported that clinical trials to reduce symptoms were positive. In contrast, 95% of Angelman parents felt that gene therapy trials to find a cure should be a priority compared to 56% of the control-group parents.
Whether parents would allow their children to participate in clinical trials, no differences were identified. Just fewer than half of the parents in both groups said they would join if the therapy had been tested in mice but not humans, and about one-fourth would participate if the treatment was tested in humans, but not in their child’s syndrome.
No differences were found between the groups regarding how confident they were in their understanding of the genetic cause of the disease. However, parents of children with Angelman had significantly higher confidence ratings in their understanding of gene therapy methods, how related medications work, and their ability to access information about new treatments.
Finally, parents were asked to identify three top priorities for gene therapies, as well as three characteristics of their children they would not want to change.
The three top priorities Angelman parents identified for clinical trials were neurology, seizures, and epilepsy (as one priority), as well as communication and motor skills. In contrast, for parents of children from the comparison group, cognitive function, expressive speech, and immune response were the top priorities.
The top three characteristics of their children parents did not want changed in clinical trials were happiness, personality, and no change. For the control group, the ranking was no change, personality, and happiness.
“Here, we show that the range of reported levels of understanding around genetics, genetic therapies, and research trials is variable across parents with children with a variety of genetic syndromes,” the researchers wrote.
“This study highlights the need for true family and patient engagement in all stages of the research design and treatment evaluation,” they concluded.
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