Strategies for assessing trial results in Angelman syndrome clinical studies revealed

In a significant development, a comprehensive study titled "Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)" has been published in the Journal of Neurodevelopmental Disorders. The study, which was financially supported by the European Union and collaborated with multiple European research institutions and universities, aimed to identify measures of use in Angelman clinical trials.

The research project, which was also supported by Roche, Biogen, Ionis Pharmaceuticals, the Angelman Syndrome Foundation (ASF), and Foundation for Angelman Syndrome Therapeutics (FAST), sought to address the challenge of designing and analysing future clinical trials for Angelman syndrome and other neurological, neurodevelopmental conditions, and rare diseases.

One of the key aspects of clinical trial design is figuring out exactly what to measure in order to evaluate efficacy. The FREESIAS study involved participants undergoing a detailed battery of clinician-led assessments at the study's start and again about one year later. These assessments included overall health status and standardized measures of mobility and communication abilities.

The study enrolled 43 children with Angelman ages 1 to 12 and 12 adults with Angelman ages 18 or older. Most clinician-rated measures were found to be feasible, with 71 out of 75 patients completing the second visit. Caregiver-based reporting of sleep and seizure frequency was generally feasible, but some improvements could be made, such as regularly reporting seizure absences.

The study found that children with Angelman ages 5 to 12 generally had better functional abilities than younger children and similar abilities compared to adults with Angelman. Interestingly, children with Angelman caused by a genetic deletion generally had poorer functional abilities compared to those with other causes.

The FREESIAS study was affected by the COVID-19 pandemic, which resulted in the cancellation of most at-home visits and a shift towards remote assessments. Despite these challenges, most of the assessments carried out provided usable data, supporting the use of this strategy.

The study's conclusions suggest that the results and future works derived from it may be useful in strengthening the analysis of future clinical trials. The measures used in the study generally met with satisfaction by caregivers, with most participants expressing satisfaction or very satisfaction with their overall study experience.

The findings of this study may prove instrumental in informing the design and analysis of future clinical trials in Angelman syndrome and other neurological, neurodevelopmental conditions, and rare diseases. The study's publication marks a significant step forward in the quest to develop effective treatments for these conditions.

Strategies for assessing trial results in Angelman syndrome clinical studies revealed