2023 Ultragenyx Update

Quick Overview

Ultragenyx, a biotech company specialising in rare diseases, is continuing its clinical development of GTX-102, a drug for Angelman syndrome. The drug is currently in a Phase 1/2 trial, studying its safety, tolerability, and pharmacokinetics and pharmacodynamics. The trial, which started in 2020, is administered via an intrathecal injection in the lower back. The trial is divided into a loading dose period with four monthly doses, followed by a maintenance period with quarterly doses. The company is planning for Phase 3 and expanding the countries for patient enrolment. Ultragenyx is committed to continuing the GTX-102 program, with encouraging data so far. For recruitment queries, contact trialrecruitment@ultragenyx.com.


Good morning and welcome to our 2023 ASF Virtual Conference. We are thrilled to kick off with the team from Ultragenyx and look forward to hearing about their latest developments. We are particularly grateful for their continued work in our community, especially during challenging times.

Today, we have the pleasure of introducing Kemi Olugemo, Vice President of Clinical Development at Ultragenyx. Kemi is a neurologist and leads the clinical development of neurological programs for rare and ultra-rare indications. She is the clinical lead for the GTX-102 program and Angelman syndrome.

About Ultragenyx

Ultragenyx was founded 13 years ago by Dr. Emil Kakkis, a medical geneticist dedicated to transforming the lives of people and families impacted by rare diseases. Ultragenyx has treated over 3,200 patients globally and has achieved four approved therapies and five indications with a high success rate on the first generation of their pipeline.

The GTX-102 Program

The GTX-102 program is evaluating an antisense oligonucleotide (ASO), GTX-102. This trial, which started in 2020, aims to study the safety, tolerability, pharmacokinetics, and pharmacodynamics of GTX-102. The trial is designed to understand how the drug is distributed in the body, how it is cleared, and how long it lasts. It also aims to understand the impact of the drug on the body, specifically in relation to Angelman syndrome.

Angelman Syndrome Outcome Measures

The trial is exploring domains like communication, sleep, behaviour, motor skills, and seizures. The study design for Phase 1 and 2 includes a total of 83 patients, aged between four to 17. The study drug is administered through a lumbar puncture, with a loading dose period and a maintenance period.

Phase 3 Planning

Ultragenyx is currently in the Phase 2 portion of the trial and is planning for Phase 3. They are expanding the countries in which they are enrolling patients and are working hard to ensure the right study design and dose for the best chances of demonstrating the drug’s effectiveness.


Ultragenyx is committed to gathering information about patients who have been treated with Rugonersen to see if they could potentially be eligible for their trials. For any questions about recruitment, please email trialrecruitment@ultragenyx.com.

We are incredibly grateful for Kemi and the Ultragenyx team’s commitment to our community. If you have any further questions about the Ultragenyx trial, please submit them to info@Angelman.org.

Thank you for joining us today, and we look forward to sharing more updates in the future.

Talk details

  • Title: 2023 Ultragenyx Update
  • Author(s): Kemi Olugemo
  • Author(s)’ affiliation: Ultragenyx Pharmaceutical
  • Publication date: 2023-07-08
  • Collection: 2023 ASF Virtual Conference