Enzyme Replacement Therapy Research

CGF Funds in Action

In 2019, Dr. Rachida Bouhenni, PhD of Akron Children’s Hospital received a grant from the Cure Glaucoma Foundation to fund research of a protein therapy that aims to cure a vision defect in children. The study, “Development of an Enzyme Replacement Therapy for Primary Congenital Glaucoma” was paused by the 2020 COVID-19 pandemic, but as of August 2020, things are back up and running. Dr. Bouhenni’s hypothesis is that introducing a lab-created enzyme into the eye of a patient with certain gene mutations will aid in the reduction of cellular stress. This will significantly limit vision loss from this condition and improve the quality of life for these children.

The image above shows the uptake of the enzyme by the affected cells in the mouse eye. The red area represents the presence of the enzyme and the success of the test.

Her first step in confirming the hypothesis was to prove that the enzyme could be successfully received into the eye. Over the course of four weeks, different groups of mice that lack the enzyme were treated with the lab-made enzyme at different doses and times. The tests were successful and the uptake of the enzyme in the eye cells is shown in the figure below. Because of the success of this segment of the research, Dr. Bouhenni can move forward to the next phase, which is extensive analysis of the data.

As of recently, Dr. Bouhenni has been able to add a graduate student to help perform the research. A private company is interested in the project and they may be able to mass-produce the enzyme for future testing and treatment. When research projects gain the interest of additional foundations and/or private companies, projects can grow and move along at a stronger trajectory. Historically the lack of both funding and personnel are the biggest barriers to research.

Dr. Bouhenni expressed her sincere gratitude to the donors and board of directors of the Cure Glaucoma Foundation for their generosity. Because of the initial grant, this promising research was able to begin and will continue to move forward.