Scientists have identified a drug, already approved for use in patients to treat urea-related disorders, that could reduce brain bleeding and risk of strokes.
Brain bleeding, caused by a defect in a gene called collagen IV, can cause strokes. Mutations in collagen IV genes cause a genetic form of eye, kidney and vascular disease which affects the blood vessels in the brain and can cause brain bleeding, even in childhood.
The researchers, from the University of Manchester and University of Edinburgh in the UK, studied mice that have a similar defect in the collagen IV gene and develop the same disease as patients.
Using sodium phenyl butyric acid they were able to reduce brain bleeding, according to the study published in the journal Human Molecular Genetics.
However, the treatment did not treat either the eye or kidney disease associated with these genetic defects.
Researchers believe that for future treatments, patients with these mutations will need to be divided into groups based on their symptoms and medical history, and the mechanism that causes the disease.
This precision medicine approach will allow for better, more targeted treatment for patients, they said.
While these genetic forms of the disease are rare, the same gene has also been implicated in common forms of brain bleeding in the general population, potentially increasing the number of people that may ultimately benefit from this work.
Further research is now required to understand how these mutations cause the disease in the different tissues so that strategies for treating all the clinical symptoms, including the eye and kidney disease, can be developed.
Specific treatments that target brain bleeding, including common diseases such as haemorrhagic stroke that accounts for 15 per cent of adult stroke, are currently lacking.
Researchers now hope these new insights will be able to lead to new treatment opportunities for patients with these conditions.
"There are no treatments for diseases due to collagen IV mutations and brain bleeding. This work has identified a potential treatment strategy in mice and is the first step in translating this to patients," said Tom Van Agtmael, from the University of Glasgow.
"It will also help to identify for which patients this strategy may be effective and for which patients it is not recommended or may be counter-indicative. This personalised approach to medicine will be important to develop the most effective future treatments," said Agtmael.
