Assessment Tools Determine Level of Angelman Syndrome Based on Clinician and Caregiver Insights

Two new standardized tools, the Symptoms of Angelman Syndrome - Clinician Global Impression (SAS-CGI) and the Caregiver-reported Angelman Syndrome Scale (CASS), have been developed to measure the severity of Angelman syndrome (AS) in children.

These tools were designed to offer a fuller picture of treatment outcomes by capturing the complexity and heterogeneity of AS symptom burden from both the clinician and caregiver perspectives. The tools, described in the Orphanet Journal of Rare Diseases, were developed to address the lack of AS-specific clinical outcomes assessments that holistically review the status of patients with AS.

The SAS-CGI is designed for clinicians, while the CASS is designed for caregivers. The clinician-focused tool evaluates symptoms from a clinical perspective, while the caregiver tool assesses their impact on the child and family.

The tools cover eight general domains: seizures, sleep issues, difficult behaviors, communication problems, poor fine motor skills, poor gross motor skills, impaired cognition, and limited ability to care for oneself. Gross motor skills are assessed for large movements like crawling, while fine motor skills are for more delicate acts like picking something up.

The researchers, led by Dr. Ginger Ward and Dr. Lynne M. Bird, wrote that at the time of the study, no AS-specific clinical outcomes assessments that holistically reviewed the status of patients with AS were publicly available. The researchers believe that having both SAS-CGI and CASS assessments will offer a fuller picture of treatment outcomes.

The tools are currently being used in clinical studies, including FAST UK (NCT05100810) and early trials of rugonersen (RO7248824). They were also included in the natural history study FAST UK, which investigates how Angelman progresses without treatment.

Unfortunately, the experimental therapy rugonersen was recently discontinued due to lackluster results. Despite this setback, the development of these tools continues to provide valuable insights into the management and treatment of AS.

The tools are designed to align with the U.S. Food and Drug Administration guidance for patient-centered drug development. This means they are designed to capture the real-world experiences of both clinicians and caregivers, providing a comprehensive view of the impact of AS on individuals and families.

These tools are a significant step forward in the understanding and management of AS, offering a more comprehensive and holistic approach to measuring the severity of the condition. As clinical trials and research continue, these tools are expected to play a crucial role in evaluating the impact of potential treatments for AS.