Round Table Discussion on Development of Therapies for AS
During a round table discussion at the 2019 FAST Science Summit, panelists addressed questions from the Angelman syndrome community regarding the development of therapies. One of the main questions asked was about the age at which therapies would be started and the specific genotypes that would be targeted. The panelists explained that they could not answer these questions as they are waiting for FDA approval and guidelines before starting treatment. However, they emphasized that their goal is to treat every patient as quickly as possible, regardless of age or genotype. Other topics discussed included the selection of endpoints for clinical trials, global access to therapies, and the potential benefits for individuals with large deletions. The panelists also highlighted the importance of consulting with knowledgeable clinicians and participating in the Global Angelman Syndrome Registry for accurate information and guidance.
This talk provides a summary of a round table discussion on the development of therapies for Angelman Syndrome (AS). The discussion took place during the 2019 FAST Science Summit and featured several experts in the field. The panelists included Emil Kakkis, Larry Glass, Jessica Duis, Scott Stromatt, Jennifer Panagoulias, Jim Wilson, Edwin Weeber, Michelle Krishnan, Matthews Adera, Becky Crean, Arthur Beaudet, and Lauren Black.
The panelists began by addressing the questions that were submitted by the community. They explained that they had received numerous questions and had collated them to prioritize the most commonly asked ones. They emphasized that they would answer as many questions as possible, but some questions could not be answered due to regulatory restrictions.
Starting Age and Genotype
One of the most common questions from the community was about the starting age and genotype for the therapies. The panelists explained that they could not provide specific answers to these questions as they were waiting for regulatory approval. However, they assured the community that their goal was to treat every patient as quickly as possible, regardless of age or genotype.
The panelists also addressed concerns about global access to the therapies. They explained that many of the companies involved in the development of these therapies were global and had plans to expand trials to different countries. They emphasized that discussions regarding availability of the therapies in specific countries would need to be held with the local health authorities.
The panelists discussed the process of choosing endpoints for clinical trials. They explained that the selection of endpoints is a complex process that involves input from the community, academics, and regulatory authorities. The final decision on endpoints is made by the sponsor of the study, in collaboration with the FDA or local health authority.
Making Treatment Decisions
The panelists emphasized the importance of consulting with healthcare professionals when making treatment decisions for individuals with AS. They encouraged families to seek advice from clinicians who are knowledgeable about AS and to participate in the Global Angelman Syndrome Registry to help drive the location of clinical trials.
Benefits for Different Genotypes
The panelists discussed the potential benefits of the therapies for individuals with different genotypes. They explained that while the UBE3A point mutation genotype may have the most potential for complete correction, individuals with larger deletions may still experience significant improvements. They emphasized that the therapies had the potential to benefit individuals with all genotypes of AS.
Age and Therapeutic Window
The panelists addressed concerns about the age at which individuals could benefit from the therapies. They explained that based on animal studies, age did not appear to be a limiting factor for the therapies. They emphasized that clinical trials would provide more information on the potential benefits for individuals of different ages.
Potential Side Effects
The panelists discussed the potential side effects of the therapies. They explained that the duration of any side effects would depend on the dose given. They emphasized that the goal was to develop therapies with long half-lives to minimize the need for frequent dosing.
The round table discussion provided valuable insights into the development of therapies for AS. The panelists addressed common questions and concerns from the community and emphasized the importance of consulting with healthcare professionals when making treatment decisions. They expressed optimism about the potential benefits of the therapies and highlighted the ongoing efforts to ensure global access to these treatments.
- Title: Round Table Discussion on Development of Therapies for AS
- Author(s): Emil Kakkis, Larry Glass, Jessica Duis, Scott Stromatt, Jennifer Panagoulias, Jim Wilson, Edwin Weeber, Michelle Krishnan, Matthews Adera, Becky Crean, Arthur Beaudet, Lauren Black
- Author(s)’ affiliation: Ultragenyx Pharmaceutical; Neuren Pharmaceuticals; Vanderbilt Department of Pediatrics; GeneTx Biotherapeutics; University of Pennsylvania; PTC Therapeutics; Roche Pharmaceuticals; Ovid Therapeutics; Ionis Pharmaceuticals; Baylor College of Medicine; Charles River Laboratories
- Publication date: 2019-12-27
- Collection: 2019 FAST Science Summit