Round Table Panel on the Treatment of Angelman Syndrome

Quick Overview

The Round Table Panel on the Treatment of Angelman Syndrome discussed various topics related to the treatment of the syndrome. The panel included experts in genetics, gene therapy, and pharmaceutical development. They addressed questions about the potential for a cure or treatment for different age groups of children with Angelman syndrome, the use of animal testing to differentiate genotypes, how to prepare for clinical trials, the possibility of participating in multiple clinical trials, the development of immunity to viral vectors, and the potential cost and insurance coverage of future treatments. The panel emphasized the need for collaboration and advocacy to ensure access to treatments for all individuals with Angelman syndrome.

Introduction

This talk provides a summary of the Round Table Panel discussion on the treatment of Angelman Syndrome, which took place during the 2018 FAST Science Summit. The panel consisted of experts in the field of genetics, gene therapy, and drug development, including Dr. Timothy Yu, Dr. Arthur Beaudet, Dr. James Wilson, Meghan Miller, Michelle Krishnan, Jennifer Panagoulias, Dr. Scott Dindot, Dr. Edwin Weeber, Dr. David Segal, and Jeremy Levin.

Treatment for Different Age Groups

One of the questions addressed by the panel was the potential cure or treatment for different age groups of children with Angelman Syndrome. Dr. Edwin Weeber explained that while the younger the age at the start of treatment, the better, there is still likely to be benefit for patients of various age groups. Dr. Beaudet added that the younger the patient, the greater the benefit, but there is likely to be benefit at any age. He also emphasized that age is a more important variable than the specific genotype of the patient.

Animal Testing for Different Genotypes

The panel discussed whether animal testing has been used to differentiate the genotypes and determine the best therapeutic approach for different genotypes. Dr. Scott Dindot explained that while there are animal models for certain genotypes, such as loss of function mutation and deletion of UBE3A, there is currently no model that is similar to the large deletion typically seen in Angelman Syndrome.

Preparing for Clinical Trials

The panel addressed the question of what parents can do to prepare their children for human clinical trials and how they can be most helpful in the process. Meghan Miller and Michelle Krishnan suggested that contributing data to the global registry and engaging in supportive measures such as physiotherapy, speech and language therapy, and occupational therapy can be beneficial in preparing for trials.

Participating in Multiple Clinical Trials

The panel discussed whether participating in one clinical trial would preclude a patient from participating in another clinical trial. Jennifer Panagoulias explained that patients who have received another drug in a clinical trial may be excluded from future trials due to safety concerns and the need to assess the effects of the investigational medicine. However, patients can participate in observational studies and natural history studies, which do not involve receiving any therapy.

Immunity to AAV Virus

Dr. James Wilson addressed the question of whether a human would develop immunity to a virus like AAV (adeno-associated virus) used in gene therapy. He explained that while the virus is viewed as foreign and can elicit an immune response when injected into the blood, preexisting antibodies do not interfere with the efficacy or safety of a treatment when injected into the cerebrospinal fluid.

Future Treatment Accessibility and Insurance Coverage

The panel discussed the future accessibility of treatments and how insurance coverage would be affected. Jeremy Levin acknowledged that the issue of insurance coverage and pricing is a challenge that still needs to be worked out. He emphasized the importance of advocacy and engagement with insurance companies and payers to ensure that all individuals with Angelman Syndrome have access to the treatments they need. Dr. Timothy Yu added that public policy, advocacy, and engagement are crucial in determining reimbursement for life-saving and quality of life-altering treatments.

Conclusion

The Round Table Panel on the Treatment of Angelman Syndrome provided valuable insights into the potential treatments for different age groups, the importance of animal testing, preparation for clinical trials, participation in multiple trials, immunity to AAV virus, and future treatment accessibility and insurance coverage. The panelists expressed their commitment to finding effective treatments and ensuring that all individuals with Angelman Syndrome have access to them.