Zynerba Pharmaceuticals presented the results at the 2020 American Society for Experimental Neurotherapeutics (ASENT) meeting March 2-5. The company also reported on caregivers’ experiences leading to fragile X diagnosis, as well as currently used treatments and associated conditions.
The Zygel study, “Post Hoc Analysis – An Open-Label Study of Transdermal Cannabidiol (ZYN002) for the Treatment of Fragile X Syndrome in Children and Adolescents: Estimating Health State Utility Scores,” addressed the effects of fragile X on health state utility indices, which use a scale from zero to one to measure the severity of pediatric disorders.
The closer to zero, the greater the impact of a condition on the patient’s health-related quality of life (HRQoL).
The index used to assess fragile X patients was the Aberrant Behavior Checklist – Community Utility Index (ABC-UI). The mean baseline score in this analysis was calculated to be 0.57, which the team said is a poor HRQoL and highlights the significant impact of fragile X symptoms on patients’ quality of life.
The data suggest a fragile X effect on HRQoL “which may be as robust as, or perhaps even more impactful, than that described in the published literature for other debilitating pediatric conditions,” Joseph M. Palumbo, MD, chief medical officer of Zynerba, said in a press release.
FAB-C assessed the potential benefit of Zynerba‘s Zygel in children with fragile X. Zygel is a gel placed on the shoulder or upper arm that delivers controlled amounts of cannabidiol, a non-psychoactive cannabis component, to the bloodstream.
Children on Zygel had a significant improvement in their mean ABC-UI scores beginning at week 4, and the gains were maintained until the end of the 12-week study.
Palumbo said the data suggest “a potential broad spectrum of benefit” of Zygel.
ABC-UI scores also correlated with the Clinical Global Impression of Severity (CGI-S) scores, an assessment of symptom severity.
A second poster, “Fragile X Syndrome Diagnosis and Patient Journey: The Caregiver’s Perspective,” addressed the initial family experience in fragile X, building on existing knowledge about disease manifestations, journey to diagnosis, and other conditions commonly seen in fragile X patients (comorbidities).
Zynerba conducted a 30-minute, anonymized online survey in the U.S. from May to June 2019. Responses came from 35 primary caregivers of children with fragile X. Children were between 3 to 17 years of age and showed signs of social avoidance.
Results showed that children were an average of 3 years old at the time of initial diagnosis. The top three reasons prompting caregivers to schedule an initial visit with a physician were: cognitive/intellectual developmental delays; issues with speech and/or motor skills; and social avoidance/social unresponsiveness.
The majority of caregivers (82.9%) scheduled a visit with a physician within six months of noticing symptoms. For 71.4% of them, the physician initially seen was a primary care physician such as a family doctor or general pediatrician. Formal diagnosis was made by a specialist in 80% of the cases, most frequently a geneticist or neurologist/pediatric neurologist.
“Children with Fragile X syndrome generally remain undiagnosed until approximately three years of age, and the path to diagnosis is complex,” Palumbo said.
The children were receiving a mean of 1.94 different treatments. Standard of care consisted of counseling/therapy for most children (77%). This was followed by traditional prescription treatment, most commonly antidepressants/selective serotonin reuptake inhibitors and stimulants (46%), and 31.4% were taking nonprescription treatments or supplements.
“Today’s standard of care includes counseling and therapy and the use of traditional prescription medications that aren’t specifically indicated for FXS,” Palumbo said.
Data showed that 77% of the children had other conditions alongside fragile X, with autism spectrum disorder being the most common (66%). It was followed by attention-deficit/hyperactivity disorder in 26% and sleep disorders in 20% of children.
“These children also have a high prevalence of comorbid conditions, which complicates the diagnosis,” Palumbo said.
Overall, “this information supports the importance of testing for the disorder early in the diagnostic journey and bringing novel treatments that specifically treat the behavioral symptoms of FXS,” he said.
“Further research and education are needed to help support early recognition of FXS by various stakeholders
throughout the patient journey,” the scientists wrote.
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