Case Report Outlines Infantile Primary Hyperoxaluria In Twins and Successful Treatment With Lumasiran
March 17, 2022
The rare genetic condition primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder affecting glyoxylate metabolism. It is estimated to occur from one to three times per million individuals. End repercussions of PH1 typically involve kidney stone formation and nephrocalcinosis, leading to renal dysfunction and kidney failure.
In a recent case report, UPMC Children’s Division of Pediatric Nephrology clinical director Michael L. Moritz, MD, and colleagues outline a rare case of infantile primary hyperoxaluria in dizygotic male twins treated with the recently (2020) approved RNA interference agent, Lumasiran.
UPMC Children’s is one of the first locations in the United States to treat a case of hyperoxaluria with Lumasiran, while Dr. Moritz is the site principal investigator on the current BONAPH1DE clinical trial, a prospective observational study of patients with primary hyperoxaluria type 1.
This recent case of PH1 is thought to be the first one in twins, and it represents likely the youngest patients (12 months of age) to date treated with the new therapeutic.
As Dr. Moritz and colleagues' case report outlines, this set of twins had varying presentations, symptoms, and laboratory and imaging findings, which illustrates the underlying complexity of the genetic disorder.
Both patients responded immediately with significant clinical improvement of laboratory values and cessation of symptoms, with no adverse events or side effects of note.
Learn more about the case using the link below.
For details about the current clinical trial of Lumasiran at UPMC Children’s, please visit ClinicalTrials.gov for details on BONAPH1DE, A Prospective Observational Study of Patients With Primary Hyperoxaluria Type 1 (PH1). ClinicalTrials.gov Identifier: NCT04982393.
Reference
Aldabek K, Grossman OK, Al-Omal O, Fox J, Moritiz ML. Infantile Primary Hyperoxaluria Type 1 Treated With Lumasiran in Twin Males. Cureus. 2022; 14(1): e21673. DOI 10.7759/cureus.21673.
