Panel Discussion with Pharma: Updates on Clinical Trials for Angelman Syndrome

Quick Overview

During a panel discussion at the 2021 FAST Science Summit, representatives from various pharmaceutical companies discussed their clinical trials for Angelman Syndrome. The panelists emphasized the importance of patient participation in trials and the need for continued research to understand the disease and develop effective treatments. They also discussed the challenges of trial enrollment and the criteria for selecting participants. The panelists acknowledged the interest in expanding trials to include different genotypes and age groups and expressed their commitment to finding ways to provide access to approved treatments for all patients. They also highlighted the need for collaboration between pharmaceutical companies, patient advocacy groups, and regulatory agencies to ensure the development and availability of safe and effective therapies.


The 2021 FAST Science Summit featured a panel discussion with representatives from various pharmaceutical companies involved in clinical trials for Angelman Syndrome. The panelists provided updates on their respective trials and answered questions from the audience. The discussion focused on topics such as trial progress, inclusion criteria, access to drugs, and future plans. Here are the key highlights from the panel discussion.


The panel included representatives from the following pharmaceutical companies:

  • Dr. Berry-Kravis from Roche
  • Dr. Kakkis from Ultragenyx
  • Dr. Sullivan from Biogen
  • Dr. Crean from Ionis Pharmaceuticals
  • Dr. Jones from Neuren Pharmaceuticals
  • Dr. Rizzo from Biogen
  • Dr. Servais from PTC Therapeutics

Trial Progress and Updates

The panelists provided updates on the progress of their respective clinical trials. They discussed the challenges and successes they have encountered and shared their plans for future phases of the trials. While some trials are still in the early stages, others are nearing completion and preparing for data analysis.

Inclusion Criteria and Patient Selection

The panelists explained the process of patient selection for clinical trials. They discussed the importance of meeting inclusion and exclusion criteria and the challenges of limited spots in trials. They emphasized the need for fair and transparent selection processes and the importance of pre-screening patients to determine eligibility.

Access to Drugs and Reimbursement

The panelists addressed concerns about access to drugs once they are approved by regulatory agencies. They discussed the importance of patient advocacy and collaboration with reimbursement agencies to ensure access to treatments. The panelists emphasized the need for comprehensive data collection during trials to support reimbursement decisions.

Endpoint Selection and Regulatory Approval

The panelists discussed the selection of endpoints for clinical trials and the regulatory approval process. They emphasized the importance of capturing meaningful clinical improvements and patient-reported outcomes. The panelists acknowledged the challenges of regulatory approval and the need for ongoing collaboration between pharmaceutical companies, regulatory agencies, and patient advocacy groups.

Future Plans and Community Engagement

The panelists expressed their excitement about the future of Angelman Syndrome research and treatment. They emphasized the importance of community engagement and collaboration in advancing the field. The panelists encouraged patients and families to participate in natural history studies and clinical trials to gather more data and support the development of effective treatments.


The panel discussion provided valuable insights into the progress and challenges of clinical trials for Angelman Syndrome. The panelists highlighted the importance of patient advocacy, data collection, and collaboration in advancing research and ensuring access to treatments. The discussion underscored the commitment of pharmaceutical companies to develop safe and effective therapies for Angelman Syndrome.

Talk details

  • Title: Panel Discussion with Pharma
  • Author(s): None
  • Author(s)’ affiliation: None
  • Publication date: 2022-01-04
  • Collection: 2021 FAST Science Summit