Drug treatment may offer new hope to some patients with brain bleeds

A drug treatment, already approved for use in patients, could offer new hope to some patients with bleeding cerebrovascular accidents and stroke.

A new research, led by the University of Glasgow and published today in Human molecular genetics, showed that the sodium phenylbutyric acid compound could be used to reduce brain bleeding that can cause strokes caused by a defect in the gene called collagen IV.

Mutations in these genes cause a genetic form of eye, kidney and vessel disease that affects the blood vessels in the brain and can cause brain bleeding even during childhood.

The researchers, which included collaborators from the Universities of Manchester and Edinburgh, studied mice with a similar defect in the collagen IV gene and developing the same disease as the patients. By using phenylbutyric acid sodium, they were able to reduce brain bleeding. However, the treatment did not treat diseases of the eyes or kidneys associated with these genetic defects.

As a result, researchers believe that for future treatments, patients with these mutations will need to be divided into groups based on their symptoms, medical history and the mechanism behind the disease. Scientists believe that this precision medicine approach will enable more effective and targeted treatment of patients.

Although 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 likely to benefit from this work.

Further research is now needed to understand how these mutations cause disease in different tissues, so that strategies to treat all clinical symptoms, including ocular and renal diseases, can be developed.

Research will also be conducted to investigate how and if a similar treatment strategy could be applied to humans suffering from brain bleeds caused by these genetic alterations.

Specific treatments that target brain bleeding, including common diseases such as stroke, which account for 15% of stroke in adults, are currently lacking. Researchers now hope that this new knowledge will provide new treatment opportunities for patients with these conditions.

Dr. Tom Van Agtmael, lead author of the University of Glasgow study, said: "There is no treatment for diseases caused by mutations in collagen IV and brain bleeding, which has made it easier. the identification of patients for whom this strategy may be effective and patients for whom this strategy is not recommended or which may be contra-indicative.This personalized approach to medicine will be important for developing the strategy. most effective future treatments. "

The document "Sodium phenylbutyric acid has both effective and counter-indicative effects in the treatment of Col4a1 disease" is published in Human molecular genetics.

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More information:
Frances E. Jones et al. 4-Sodium phenylbutyric acid has both effective and counter-indicative effects in the treatment of Col4a1 disease, Human molecular genetics (2018). DOI: 10.1093 / hmg / ddy369