There has been immense progress in the diagnosis and treatment of PH! Research and clinical trials held around the world, much of it here in Canada, have uncovered a vast amount of scientific knowledge about PH in a short amount of time. Improvement in the understanding of this disease has created new avenues of treatment and hopefully will one day lead to a cure. As PH awareness month comes to a close, I wanted to discuss an area of research that gives reason to be optimistic!
Up to 30% of primary PAH patients may have a genetic cause for their condition*. Over the last couple of decades, research advancements have been able to pinpoint specific gene mutations that can increase the risk of developing PH. This has led to genetic testing that can allow for a pre-symptomatic diagnosis for certain patients who have a family member with PH*. In the United States, researchers have developed the PAH Biobank, which has collected genetic information from over 2900 people and will provide invaluable data for future studies, hopefully leading to new discoveries**.
A few mechanisms for genetic treatment have also been developed and tested in animal models. For example, SERCA2a gene therapy has shown promising results in improving pulmonary hypertension induced in pigs***. Numerous studies have been conducted on this potential treatment over the past seven years, including one published in 2020 that tested injection delivery options for the therapy***. The treatment itself works by affecting calcium channels which exhibit abnormal patterns in PH patients***. Calcium channels impact vasoconstriction and vasodilation, which regulate blood pressure***. Although this treatment is still years away from being accessible to patients, the encouraging results in animal studies, and expanding body of research on the mechanism and treatment delivery will potentially lead to an entirely new type of PAH treatment!
PH research should provide hope for improvements in diagnosis and treatment in the future. Patients can help support PH research by participating in clinical trials. Several studies are recruiting here in Canada, and you can find a list of recruiting trials on PHA Canada's website under the Research tab.
References:
*Galiè, N., McLaughlin, V. V., Rubin, L. J., & Simonneau, G. (2019). An overview of the 6th World Symposium on Pulmonary Hypertension. European Respiratory Journal, 53(1), 1802148. https://doi.org/10.1183/13993003.02148-2018.
**Welcome to the National Biological Sample and Data Repository for pah. PAHBIOBANK. (n.d.). from https://www.pahbiobank.org/.
***Bikou, O., Tharakan, S., Yamada, K., Kariya, T., Aguero, J., Fish, K., & Ishikawa, K. (2020). SERCA2a gene therapy ameliorates pulmonary hypertension in a pig model: Comparison of different delivery methods and therapeutic effect. Pulmonary Hypertension. https://doi.org/10.1183/13993003.congress-2020.3555.