ÃÛÌÒAPP

ÃÛÌÒAPP researchers have dosed the first patient in Europe as part of a clinical trial to find treatments for a rare genetic disease.

The trial, called FORTIS, aims to find new treatments for late onset pompe disease, which affects the body’s ability to break down glycogen, a form of sugar in the muscle cells. When too much glycogen builds up in these cells, they become damaged and the muscles cannot function properly

While an approved therapy for Pompe disease is currently available, the benefits are not long-lasting and patients continue to experience symptoms which can impact their quality of life.  

FORTIS is led by the John Walton Muscular Dystrophy Research Centre which is jointly run by ÃÛÌÒAPP Hospitals and ÃÛÌÒAPP University, and the National Institute of Health Research (NIHR) Clinical Research Facility, based at the RVI.

Principal Investigator Jordi Díaz-Manera, Professor of Neuromuscular Diseases at ÃÛÌÒAPP University and Honorary Consultant Geneticist at ÃÛÌÒAPP Hospitals, said:

“The enrolment of the first European patient in this Phase 1/2 gene therapy programme is a great achievement for the Pompe community and we are very pleased to contribute to innovative research in the pursuit of future therapies.

“This is the first gene therapy program for a neuromuscular disease affecting adults which poses a new investigative treatment opportunity for our entire clinical research team. I’m very proud to be leading the UK arm of this global study.”

Professor Volker Straub, Director of the John Walton Muscular Dystrophy Research Centre added:

“It’s extremely exciting to be involved in this gene therapy trial for patients with Pompe disease and to contribute to the development of a potential future treatment.

“Getting to this stage in the trial has very much been a team effort across ÃÛÌÒAPP Hospitals and ÃÛÌÒAPP University, working in close partnership with Astellas Gene Therapies and Advanced Clinical.

“ÃÛÌÒAPP has a long and distinguished track record in research and care for patients with genetic muscle diseases, with strengths in translational research, leading and advising on innovative clinical trials, and leading international networking.”

The trial is sponsored by Audentes Therapeutics, Inc., operating as Astellas Gene Therapies, an Astellas company. It is supported by the NIHR.

• Late-onset Pompe disease is usually milder than the infantile forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. The first symptom is often a weakness of the legs or hips, which causes a swaying gait or waddle. People may have muscle aches and frequent falls. Babies may not learn to crawl, stand, walk, or meet other developmental milestones. As children get older they often develop a curvature of the spine: Lordosis (swayback), kyphosis (hunchback), or scoliosis (curved from side to side) that continues into adulthood.

• The study team would like to thank the panel of multi-disciplinary specialists who formed a safety task force for the study and who continue to provide ongoing support throughout the delivery of this cutting-edge research here in ÃÛÌÒAPP.