The FREESIAS Study: Advancing Rare Disease Research at Roche

Quick Overview

Dr. Michelle Krishnan from Roche presented an update on Roche’s drug development program for Angelman syndrome at the 2019 FAST Science Summit. She discussed the use of RNA therapy, specifically an LNA molecule, to activate the paternal copy of the UBE3A gene and increase UBE3A protein expression in the brain. Dr. Krishnan also introduced the FREESIAS Study, an endpoint study sponsored by Roche/Genentech, Biogen, and Ionis. The study aims to inform the design of future clinical trials by assessing various endpoints related to Angelman syndrome, such as expressive communication, independence, sleep, maladaptive behavior, gross motor skills, fine motor skills, and seizures. The study is currently recruiting participants aged 1 to 12 and is focused on feasibility and the use of digital devices for data collection. Dr. Krishnan emphasized the importance of collaboration between the scientific community, clinicians, investigators, industry partners, and the Angelman community in advancing drug development for Angelman syndrome.

By Michelle Krishnan

Introduction

Dr. Michelle Krishnan, head of the Rare Disease Group at Roche, presented an update on Roche’s drug development program and the FREESIAS Study at the 2019 FAST Science Summit. The study aims to translate cutting-edge scientific research into treatments for individuals with rare diseases, specifically focusing on Angelman syndrome.

Roche’s Drug Development Program

Dr. Krishnan discussed Roche’s approach to rare disease drug development, which starts with scientific research. Roche is exploring RNA therapy, specifically an LNA molecule, to modify the expression of the UBE3A gene in Angelman syndrome. This therapy aims to activate the paternal copy of the gene, which is silenced in individuals with Angelman syndrome due to a genetic change on the maternal copy.

Moving from Science to Clinical Trials

Dr. Krishnan explained the process of moving from scientific concepts to clinical trials. This involves conducting experiments in animals, such as mice and monkeys, to understand the effects of the LNA molecule. Roche plans to start Phase 1 clinical trials in 2020, with the goal of bringing breakthrough therapies to individuals with Angelman syndrome.

The FREESIAS Study

The FREESIAS Study is an endpoint study sponsored by Roche/Genentech, in collaboration with Biogen and Ionis. It is a non-drug observational study designed to inform the design of future clinical trials for Angelman syndrome. The study focuses on measuring endpoints that are important to Angelman families, such as expressive communication, independence, sleep, maladaptive behavior, gross motor skills, fine motor skills, and seizures.

The study involves two clinic visits and three home visits, including an overnight EEG assessment. The goal is to understand the feasibility of collecting data using new digital devices and to design future trials with minimal burden on families. The study is currently recruiting Angelman patients aged 1 to 12, as well as control participants.

Feasibility and Early Results

Dr. Krishnan shared early results from the FREESIAS Study, demonstrating the feasibility of collecting data in the home setting. EEG traces and sleep data collected from participants showed promising results. The study is ongoing, and more information can be obtained from the trial support line or by visiting Roche’s booth at the conference.

Collaboration and Future Plans

Dr. Krishnan emphasized the importance of collaboration in rare disease research. Roche is working closely with the Angelman community, scientific community, clinicians, investigators, and industry partners to develop effective treatments and design meaningful clinical trials. The Global Registry and clinic database are valuable resources for gathering information and designing trials that benefit all individuals with Angelman syndrome.

Conclusion

Dr. Krishnan concluded her presentation by expressing gratitude to the families, site teams, academic collaborators, and investigators involved in the FREESIAS Study. She emphasized the importance of collaborative efforts in advancing rare disease research and promised to keep the community updated on future developments, including the Phase 1 clinical trials.