Ph 1/2 FIH study of UX053 in patients with GSD III
Research type
Research Study
Full title
A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients with GSD III
IRAS ID
297909
Contact name
Gisela Wilcox
Contact email
Sponsor organisation
Ultragenyx Pharmaceutical Inc.
Eudract number
2021-000903-19
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Research Summary
This is a phase 1/2 first in human study to evaluate the safety, tolerability and pharmacokinetics of the single ascending doses (part 1, open label) and repeat doses (part 2, randomised, double blind, placebo controlled) of the study drug, UX053, in patients with Glycogen Storage Disease Type III (GSD III). GSD III is a rare genetic disease caused by a lack of the glycogen debranching enzyme (GDE). Glycogen, which is made from long branched chains of a sugar called glucose, is a way the body stores energy in the liver and muscles. Patients with GSD III do not make enough GDE to break glycogen down to glucose (a simple sugar source of energy for the body). Without enough GDE to break down the glycogen, it will start to build up in the liver, heart, or muscle, causing damage to these organs. It can also lead to dangerously low blood sugar. There is no approved medication to treat GSD III, and the disease is managed with diet. UX053 is an experimental, mRNA-based medicine that is being tested for the treatment of GSD III. mRNA (messenger ribonucleic acid) medicines are instructions that direct cells in the body to make proteins. mRNA is rapidly broken down in the body and doesn’t cause any permanent changes to the genes. The study will include screening, nutrition stabilisation period, baseline visits, home visits and end of study visit. In part 1, all patients will receive UX053. In part 2, patients will be randomised to either receive UX053 or placebo (salt water with no active medicine). This study is open to male and female patients, aged 18 and above with GSD III. Approximately 30 patients will be enrolled across 10 sites in Europe, UK and USA. Patients will spend approximately 4 to 12 months on the study.
Summary of Results
A PDF of the lay summary can be found on https://www.ultragenyx.com/our-research/our-clinical-trial-results/ within 1 year of the global end of trial
REC name
South Central - Oxford A Research Ethics Committee
REC reference
22/SC/0053
Date of REC Opinion
15 Jul 2022
REC opinion
Further Information Favourable Opinion