Promising Tool to Measure Patient Outcomes

Worldwide, approximately 2 million people suffer from some form of inherited retinal degeneration (IRD). These slowly progressing diseases, caused by varying genetic alterations, can lead to permanent vision loss. The effects of retinal dystrophies are unique to each patient and type of disease. All can significantly impact a patient’s quality of life.

Until recently, treatments for IRDs were unavailable. However, new therapeutic advances such as gene therapy are now options for IRD treatment. As noted in last year’s report, Kellogg offers the first FDA approved gene therapy, Luxterna. Clinical trials are under way at Kellogg to evaluate the efficacy of additional gene therapies. These and future regenerative medicine trials would benefit from standardized outcome measures and testing protocols to assess the benefits to patients.

That’s why doctors and researchers at the Kellogg Eye Center have developed an instrument to capture standardized patient-reported outcomes (PROs) for use in IRD trials. The Michigan Retinal Degeneration Questionnaire (MRDQ) has been validated in a subset of the IRD population after extensive patient interviews, initial field testing, and data analysis. K. Thiran Jayasundera, M.D., M.S., of the Kellogg Eye Center and lead investigator of the National Eye Institute-funded MRDQ study, notes that, as new treatments are developed, it is important to evaluate whether or not the responses to treatment are meaningful to the patient. For example, a patient may have 20/20 visual acuity, but be unable to walk through an unfamiliar room due to a severely constrained visual field or background illumination. “We might see improvements in the testing of patients, but what we don’t know is how the treatment is enhancing the patient’s everyday life,” says Dr. Jayasundera. “The MRDQ addresses this.”

K. Thiran Jayasundera, M.D., M.S.

"We might see improvements in the testing of patients, but what we don't know is how the treatment is enhancing the patient's everyday life," says Dr. Jayasundera. "The MRDQ addresses this."

Gabrielle D. Lacy, M.S., a University of Michigan medical student and first author of the MRDQ paper, stresses the importance of patient-centered care. “This is a tool to help bridge the communication between the provider and the patient. It gives patients an opportunity to express their concerns and to make sure their needs are being addressed.”

The current version of the MRDQ will undergo further assessment. “This process will require administration of the questionnaire to a larger sample of participants with varying IRDs,” says MRDQ study co-investigator David C. Musch, Ph.D., M.P.H. These additional studies will measure on a larger scale how well the MRDQ captures changes in visual function and allow the MRDQ to become a standardized measurement tool for future IRD clinical trials.

“This novel PRO measure addresses the impact of IRDs on daily tasks that will effectively capture patient experiences as well as bolster research efforts in this field,” says Michigan Medicine statistician Chris Andrews, Ph.D.

Other contributors to the MRDQ study include Kellogg Eye Center researcher Rebhi Abuzaitoun, M.D., and faculty members Maria Fernanda Abalem, M.D. Ph.D., M.Sc.; Julie Rosenthal, M.D. M.S.; and Joshua Ehrlich, M.D., M.P.H.