Pharma Industry Update session

Quick Overview

The Pharma Industry Update session at the 2022 ASF Family Conference shared updates on drug development programs and clinical trials for Angelman syndrome. Roche has completed the first part of the Phase 1 study for Rugonersen and is now focusing on chronic dosing. Ultragenyx’s GTX 102 has shown promising results in safety and clinical activity. PTC Therapeutics is developing a gene therapy program, while Ionis and Biogen are conducting the HALOS trial. Neuren Pharmaceuticals’ NNZ-2591 has shown promising results in preclinical studies and a Phase 2 study is open for enrolment in Australia. Clinical trials are crucial for treatment development, with both objective and subjective measures being important. Families interested in participating in trials can access information through local clinicians, centres of excellence, and online resources. Efforts are being made to maximise access to trials for the Angelman syndrome community.


The Pharma Industry Update session at the 2022 ASF Family Conference provided valuable insights into the latest developments in the field of Angelman syndrome. The session featured presentations from industry experts who shared updates on various drug development programs and clinical trials. The goal of these updates is to provide hope and progress for the Angelman syndrome community.

Updates from Roche

Ina Traebert from Roche provided an update on the Rugonersen development program for Angelman syndrome. Roche has been actively engaging with the Angelman syndrome community since 2015 and initiated clinical studies in 2018. The first part of the Phase 1 study has been completed, and the second part, which focuses on chronic dosing, has commenced. Roche is committed to bringing the drug to all patients with Angelman syndrome and is exploring infrequent interventions. Additionally, Roche has conducted an observational study in collaboration with Biogen and Ionis to identify assessment tools for measuring symptoms and treatment response in Angelman syndrome.

Updates from Ultragenyx

Camille Bedrosian from Ultragenyx provided an update on the Phase 1/2 study of GTX 102 for Angelman syndrome. GTX 102 has shown acceptable safety results and encouraging clinical activity in multiple functional domains. Ultragenyx is exploring higher doses of GTX 102 and is planning for a pivotal study.

Updates from PTC Therapeutics

PTC Therapeutics is developing a gene therapy program for Angelman syndrome and has established a manufacturing process in New Jersey. Currently, PTC Therapeutics is conducting toxicology studies and is committed to bringing a safe gene therapy to clinical trials.

Updates from Ionis and Biogen

Ionis and Biogen are conducting the HALOS trial, a Phase 1/2 trial testing an antisense oligonucleotide for Angelman syndrome. The HALOS trial aims to assess the safety and efficacy of the drug and has combined phases to expedite the development process. Outcome measures, such as the CGI, are used to evaluate the clinical benefit of the drug. The HALOS trial is currently ongoing, and the results will inform the next steps in the development process.

Updates from Neuren Pharmaceuticals

Neuren Pharmaceuticals is developing NNZ-2591, a synthetic analog of cyclic glycine proline, for the treatment of Angelman syndrome. Preclinical studies have shown promising results, demonstrating that NNZ-2591 can improve synaptic function and restore normal behaviors in mouse models. A Phase 1 study in healthy adults showed a good safety profile and predictable pharmacokinetics for NNZ-2591. The Phase 2 study for Angelman syndrome is open for enrollment in Australia and will evaluate safety, tolerability, and clinical response.

Importance of Clinical Trials

Clinical trials play a crucial role in advancing the development of treatments for Angelman syndrome. Objective measures in clinical trials directly assess the patient’s abilities and symptoms, providing reliable data. Subjective measures, such as questionnaires, rely on personal interpretations and judgments about changes in a patient’s life. Both objective and subjective measures are important in clinical trials to understand the meaningful impact of a treatment. Placebo-controlled trials are considered the gold standard for determining whether a treatment works or not. However, the placebo effect, where patients have a response to a treatment even when they are not receiving the active drug, can make it more difficult to show the effect of an actual drug. Blinding in clinical trials, where neither the clinician nor the patient knows the treatment arm, helps minimize bias and evaluate the true effects of the drug. It is important for researchers to control for external factors that can influence the success of a trial.

Accessing Clinical Trials

Families interested in participating in clinical trials can learn more through their local clinicians, centers of excellence, and resources like and foundation websites. While waiting to participate in a clinical trial, families can educate themselves about trials and reach out to study sites for more information. Natural history studies and survey studies are also available for families to engage with and stay connected to the community. Efforts are being made to maximize access to clinical trials for the Angelman syndrome community, including global reach, patient engagement, and support for travel and participation. The goal is to ensure that all families who want to participate in trials have the opportunity to do so.

Talk details

  • Title: Pharma Industry Update session
  • Author(s): Ina Bruenig Traebert, Camille Bedrosian, Ifode Ajari, Rebecca Crean, Nancy Jones
  • Author(s)’ affiliation: Roche Pharmaceuticals; Ultragenyx Pharmaceutical; PTC Therapeutics; Ionis Pharmaceuticals; Neuren Pharmaceuticals
  • Publication date: 2022-08-17
  • Collection: 2022 ASF Family Conference