Rigshospitalet is the first hospital in the world to use gene therapy to treat a patient with limb girdle muscular dystrophy R9. If the treatment works as expected, it will block the development of the disease. It is a congenital disease that can lead to many symptoms, from walking difficulties to dependency on a ventilator to aid breathing.
Professor John Vissing, a consultant at the Department of Neurology , is responsible for the treatment at Rigshospitalet. He sees great potential and a new opportunity to help a group of patients whose previous prospects were only to have their symptoms treated.
“Gene therapy could be a game changer for patients who have previously faced everything from walking difficulties to dependency on a ventilator. If the treatment works as we hope, we could slow down the development of the disease and thereby change the prospects for the patient,” said Professor John Vissing.
Blocks muscular dystrophy
The treatment is part of the first phase of an international research project in which six patients with limb girdle muscular dystrophy R9 are receiving gene therapy this year. Professor John Vissing assesses that there is a good chance that the treatment will have an effect and halt the disease.
“We won’t be able to restore muscle cells that have already been lost through the disease. However, we will be able to save existing, functioning muscle cells. Diseased cells may even get a boost. Therefore, we expect to be able to block the disease at its current stage, perhaps even with some improvement,” said Professor John Vissing, who designed the research project with the company behind the treatment.
Patients with limb girdle muscular dystrophy R9 lack an important enzyme that normally puts glucose on the surface of a cell. This means the glucose chains on the cells are destroyed. The gene therapy helps the patient produce glucose so that the chains can remain intact.
The treatment is given as an IV injection, and the deficient genes are helped into the cells by a harmless virus.
It will not be possible to draw any conclusions about whether the treatment has had a clinical effect for patients until around one year after the infusion. However, muscle-tissue samples taken three months after the treatment may indicate whether the glucose chains on the surface of the muscle cells are being formed normally. And whether the patient has a potential for improvement.
Hope for future treatments
John Vissing stresses that the gene therapy is very specifically designed for one certain type of muscular dystrophy; limb girdle muscular dystrophy R9.
“The treatment can only be used for patients who have exactly this type of muscle disease, but the project could teach us more about how other treatments could be developed in the future. And this gives hope for other, similar congenital diseases.”