Bone marrow transplantation is the only treatment available for Wiskott-Aldrich syndrome. Researchers have now tested a gene therapy variant – with success.
Wiskott-Aldrich Syndrome (WAS) is an inherited disorder that weakens the immune system by reducing the production of antibodies. About three out of a million children suffer from the syndrome, which is inherited as an X-linked disease and therefore almost exclusively affects boys. The first petechial bleeding occurs in patients shortly after birth. Children with severe WAS suffer from increased bruising, bloody diarrhea and persistent bleeding after comparatively minor injuries. They are also more susceptible to infections and have an increased risk of cancer. The current standard of care is a bone marrow transplant, but only 20% of patients find a match. Without appropriate treatment, the disease can be life-threatening: many children do not live past the age of 10.
An international research team has therefore searched for an alternative therapy to transplantation. To do this, they treated eight children suffering from WAS with lentiviral gene therapy: Using the harmless lentivirus, the scientists transferred healthy versions of the faulty gene that causes WAS. Scientists have previously attempted to transfer healthy genes through a retrovirus. While this approach was effective, it also resulted in numerous side effects due to the severe toxicity.
|follow the channel orphanageto fill in the gaps in your knowledge of orphan drugs.
Are you also interested in news from other medical fields? Discover more DocCheck channels here.
Lots of effect, few side effects
Following treatment with the lentiviruses, the doctors observed that the number and severity of infections decreased significantly. Furthermore, the intake of antibiotics could be avoided. The typical skin eczema associated with the disease also disappeared completely in the subjects. Although some patients continued to have low platelet counts after treatment, none of the patients experienced major bleeding episodes. The children, aged four to nine years, were observed for at least four years. During this time, the benefits of gene therapy continued and no serious side effects were identified.
“This work shows the potential of gene therapy as a safe alternative for WAS patients for whom transplantation is a less favorable option,” study author Prof. Adrian Thrasher classifies the results. The immunologist and his colleagues hope that their research will not only extend the life expectancy of children with WAS by decades, but also significantly improve their quality of life. “Although this treatment is not yet available, we hope that with long-term follow-up, it could offer the chance of a potential cure for children with life-limiting immunodeficiencies such as WAS,” says Prof. Thrasher.
This text is based on a press release from University College London. You can find the original publication here.
Image Credit: Warren Umoh, unsplash