Characterizing the Health Care Utilization and Disease Manifestation of Primary Hyperoxaluria Type 1

Michael L. Moritz, MD, clinical director of pediatric nephrology and medical director of pediatric dialysis and pediatric kidney transplantation in the Division of Pediatric Nephrology at UPMC Children's Hospital of Pittsburgh, was the senior author of a recent multicenter, international study published in the journal Frontiers in Medicine that explored in-depth how the rare genetic disorder, primary hyperoxaluria type 1 (PH1) is manifested in patients alongside the relative health care utilization profiles in varying degrees of severity of the disease.

The rare genetic disease PH1 is well known to cause devastating and irreparable damage to the kidneys, and it also can cause the failure of other organs as the disease progresses over time.

The study, conducted by centers in the United States, Canada, France, and Germany compiled patient chart data in a cohort of 120 individuals with the genetic disorder.

"There is very little data available on PH1 in terms of its clinical manifestations and how these manifestations translate into disease burden and subsequent health care use," says Dr. Moritz. "PH1 is such a rare disorder that the only way possible to obtain powerful enough data to help us better understand these patient's needs and how those needs translate into utilization is through a collaborative effort like this investigation."

Study Highlights and Clinical Learnings

In the patient cohort analyzed in this retrospective chart review study, the median age of patients at the time of diagnosis of PH1 was 17.4 years. Follow-up data on patient care and outcomes were available for a median of 1.7 years post-diagnosis.

The study found that patients with PH1 experience significant levels of morbidities associated with their underlying genetic disorder and equivalent high health care utilization.

More than half (56.8%) of the patients experienced both urinary tract infections and kidney stones. Pain was also a frequent occurrence, with 64% of patients experiencing varying degrees of pain. Also high on the symptom burden list was fatigue, at more than 71.7%.

This patient cohort experienced exceedingly high rates of emergency department and urgent care visits, as well as hospitalizations. The percentage of patients with hospitalization related to their underlying PH1 diagnosis was 84%, while emergency and urgent care visits were noted in 81.6% of the cohort.

"The symptom burden and utilization in terms of hospitalizations and emergent medical needs is very high. PH1 patients are a highly fragile group of individuals with significant, multidimensional medical needs resulting from the disorder. Having this kind of data should be very helpful for clinicians in care planning and monitoring," says Dr. Moritz. "Additionally, there are exciting new therapies emerging for PH1 that we hope will significantly decrease the burden of disease.”

Learn more about the study and its findings and conclusions at the reference below.

Reference

Wang X, Danese D, Brown T, Baldwin J, Sajeev G, Cook EE, Wang Y, Xu C, Yank H, Moritz ML. Primary Hyperoxaluria Type 1 Disease Manifestations and Healthcare Utilization: A Multi-Country, Online, Chart Review Study. Front Med. 2021; 8: 7003305.