Extracted Stem Cells Provide Personalized Treatments for Hemophilia

A new study shows the cells from patients' blood could be developed as treatments for heart and certain circulatory diseases.

By growing and analyzing different stem cells, scientists have been able to discover the cause of various diseases in individual patients. Researchers believe that this could help doctors prescribe more effective treatments according to the defects identified in patients' cells. They even believe this could provide insights into treating diseases for the heart, blood and circulation, including heart attacks and hemophilia.

The study focused on von Willebrand disease (vWD), which is estimated to affect 1 in 100 people and can cause excessive, sometimes life-threatening bleeding. vWD is caused by a deficiency of von Willebrand factor (vWF), a blood component involved in making blood clot. vWF is produced by endothelial cells, which line the inside of every blood vessel in our body. It is often difficult to study these cells, according to researchers, because taking biopsies from patients can be invasive.

Dr. Anna Randi from the National Heart and Lung Institute, Imperial College London led the group, used a new approach to investigate the disease, along with the lead author of the study, Dr. Richard Starke, a British Heart Foundation Intermedia Fellow. They took routine blood samples from eight patients with vWD, extracted stem cells called endothelial progenitor cells https://circres.ahajournals.org/content/95/4/343.abstract and grew them in the lab to yield large numbers of endothelial cells.

Dr Randi believes that endothelial progenitor cells could become an invaluable resource for testing new drugs for vWD and other diseases. "We will be able to test the effects of a range of compounds in the patients' own cells, before giving the drugs to the patients themselves," she said.

Results from the testing provided the ability for scientists to be able to detect problems in the cells. Professor Mike Laffan, a collaborator in the study who was also in charge of the patients at Hammersmith Hospital in West London with vWD, said he his hoping to apply these findings to reduce severe bleeding in patients.

Scientists are now interested in the possibility of using endothelial cells as a treatment in themselves. For instance, hemophilia, the hereditary bleeding disorder which affected Queen Victoria's family, might one day be treated by taking these cells from a patient and replacing the gene that causes the disease, then putting them back into the patient.

Funding for the study came from the British Heart Foundation, the Medical Research Council and the National Institute for Health ResearchImperial Biomedical Research Centre.