Clinical Trials in Angelman Syndrome

Quick Overview

Clinical trials in Angelman syndrome are generating a lot of excitement in the community. There are many exciting things happening, including the development of new therapies and the potential for significant improvements in the lives of individuals with Angelman syndrome. The trials are still in the early stages, but there is hope that they will lead to positive outcomes. It is important for families to be informed about what participating in a clinical trial entails, as it can be a significant commitment of time and effort. The community can support clinical trials by providing feedback, engaging with the research process, and advocating for more trial sites. Overall, there is a lot to be hopeful about in the field of clinical trials for Angelman syndrome.

Welcome to the 2021 ASF Virtual Family Conference! We are thrilled to have you here for the second day of the conference. Tonight, we have an exciting panel discussion on clinical trials in Angelman syndrome. We know that there are many exciting developments happening in the Angelman community regarding clinical trials, and we understand that you have questions. We encourage you to ask your questions in the chat box, as this is a live panel and we will do our best to answer as many questions as possible.

Before we begin, we would like to remind you to provide feedback for the conference. By giving feedback, you have a chance to win $50,000, which could greatly impact our community. To provide feedback, simply text ASF to 90412 and sign up. Now, let’s get started with the panel discussion.


Dr. Elizabeth Jalazo, a parent to a child with Angelman syndrome and the leader of the Angelman Syndrome 15q clinic research network, will moderate the panel discussion. The panelists include Dr. Shafali Jeste, a pediatric neurologist at Children’s Hospital of LA, and Dr. Carlos Bacino, a geneticist at Baylor College of Medicine.

The Exciting Time for Clinical Trials

Dr. Jalazo emphasizes that this is an incredibly exciting time for the Angelman community, with many pharmaceutical companies working on clinical trials. She acknowledges that there may be anxiety surrounding these trials and assures the audience that the goal of the panel is to answer their questions and provide clarity.

Questions from the Community

Dr. Jalazo explains that they have collected questions from the community and will address them during the panel discussion. She encourages the audience to continue asking questions in the chat box, and even if they don’t get to all the questions during the session, they will try to answer them later.

General Discussion on Clinical Trials

Dr. Jalazo clarifies that the panel will be discussing clinical trials in general and not specific ongoing trials. She explains that the panelists may not be able to provide information beyond what is publicly available. However, she encourages the audience to ask their questions, as the panelists will do their best to address them.


Dr. Jalazo introduces the panelists, starting with Dr. Shafali Jeste, a pediatric neurologist who specializes in neurodevelopmental disorders. Dr. Jeste discusses her work in clinical trial readiness, focusing on identifying biomarkers and clinical endpoints for different genetic syndromes, including Angelman syndrome. She also mentions her involvement in the FREESIAS Natural History Study and the TANGELO trial.

Dr. Carlos Bacino, a clinical geneticist at Baylor College of Medicine, introduces himself as someone who has been involved in clinical trials for Angelman syndrome since the early stages. He discusses his experience in collaborating with other researchers and his role as the medical director of the Angelman Syndrome Clinic.

Dr. Liz Berry-Kravis, a child neurologist at Rush, shares her experience in clinical trials for Fragile X Syndrome and other neurodevelopmental disorders. She emphasizes the importance of developing appropriate outcome measures to demonstrate the effectiveness of treatments.

Addressing Community Questions

Dr. Jalazo starts addressing the questions collected from the community. She clarifies that the GTX-102 clinical trial is currently on hold, pending FDA approval of the new protocol. She mentions that the trial has been approved in the UK and Canada, and the FDA’s decision is expected in the next month or two.

Regarding the age group targeted in clinical trials, Dr. Jeste explains that there is a general belief that earlier treatment is better, but there is still a lot to learn about the optimal age for treatment. She mentions that most trials have a wide age range, starting in early childhood and going through adolescence. She also discusses the challenges of including adults in trials and the need for more research in this area.

Dr. Bacino adds that the decision on age range depends on the drug and the expected effects. He mentions that Roche is working on including the one to four-year-old age group in their trial, while genetics has focused on the four to 17-year-old age range. He also mentions that Ionis Biogen is planning to include a broader age range, including adults and young children.

Clinical Trials in Different Genotypes

Dr. Berry-Kravis addresses the question about clinical trials involving mosaicism in Angelman syndrome. She explains that currently, there are no trials specifically targeting mosaicism or other genotypes. However, she mentions that gene therapy trials may be more suitable for UPD patients, as the therapy targets the UBE3A gene.

How the Community Can Help

The panelists discuss the role of the community in supporting clinical trials. Dr. Jeste emphasizes the importance of clear and honest communication about the trials and their goals. She encourages parents who have participated in trials to share their experiences and act as ambassadors for the studies. Dr. Berry-Kravis mentions the need for financial support to establish and sustain clinical trial sites.

Starting Clinical Trials at New Sites

Dr. Bacino explains that starting clinical trials at new sites can be challenging due to the regulatory and administrative requirements. He mentions the need for experienced teams and study coordinators to facilitate the process. Dr. Berry-Kravis adds that funding is often a barrier for new sites, and support from the community can help overcome this challenge.

Timeline for Gene Therapy Trials

The panelists discuss the timeline for gene therapy trials. They mention that many groups are interested in starting trials and expect them to begin in the next year or two. However, the timeline may vary depending on the progress of each trial.

Positive Outlook for Clinical Trials

In conclusion, the panelists express their excitement about the progress in clinical trials for Angelman syndrome. They highlight the potential for transformative therapies and the opportunity to change the lives of individuals with Angelman syndrome. They emphasize the importance of patient advocacy groups like ASF and the collaborative efforts of researchers, clinicians, and families in driving these advancements.

Closing Remarks

Dr. Jalazo thanks the panelists for their insights and the audience for their participation. She reminds everyone to join the conference tomorrow for more discussions on natural history studies, clinics, and research in Angelman syndrome. She expresses gratitude to ASF and other organizations for their support and encourages families to stay hopeful and engaged in the journey towards better treatments for Angelman syndrome.

Talk details

  • Title: Clinical trials in Angelman syndrome
  • Author(s): Elizabeth Berry-Kravis, Shafali Jeste, Carlos Bacino
  • Author(s)’ affiliation: Rush University Medical Center; Children’s Hospital Los Angeles; Texas Children’s Hospital
  • Publication date: 2021-08-11
  • Collection: 2021 ASF Virtual Family Conference