ICYMI: Phase 3 Trial Data Available on Lumasiran for Primary Hyperoxaluria type 1


Earlier this year, the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) held its International Congress. During the Congress, researchers discussed the latest in research and scientific innovation within this field. According to Marketwatch, one such presentation centered around the results from the Phase 3 ILLUMINATE-C clinical trial. This trial evaluated lumasiran for primary hyperoxaluria type 1 (PH1). Ultimately, the positive results highlight the therapy’s ability to reduce plasma oxalate levels and improve patient outcomes.

Lumasiran: An Overview

Sold under the brand name OXLUMO, lumasiran is designed to treat both adult and pediatric patients with PH1. The treatment has received Breakthrough Therapy designated in the United States, shares biopharmaceutical company and drug developer Alnylam Pharmaceuticals (“Alnylam”). Lumasiran is an RNAi therapy which targets hydroxyacid oxidase 1 (HAO1), which normally encodes for the production of glycolate oxidase. Given via subcutaneous administration, lumasiran stops too much oxalate from being produced. Altogether, this is designed to reduce the symptoms and burdens of PH1. While lumasiran has been found to be relatively safe and well-tolerated, side effects can occur. These can include itchiness, pain, inflammation, and injection site reactions.

The ILLUMINATE-C Study for Lumasiran

Altogether, 21 participants with severe renal impairment enrolled within the Phase 3 ILLUMINATE-C study. Of these, six participants not on dialysis made up Cohort A, while the remaining patients, who did require hemodialysis, made up Cohort B. Originally, researchers found that lumasiran treatment reduced plasma oxalate levels by a mean 33-42% between both cohorts. This plasma oxalate reduction was also sustained over time. More recently, researchers used new exploratory analyses to further evaluate the potential benefits of lumasiran for PH1. Findings include:

  • In addition to reducing plasma oxalate levels, lumasiran also improved cardiac function. Treatment also largely improved medullary nephrocalcinosis (the calcification of the renal medulla) in patients within the second cohort.
  • Prior to the study, a number of patients within the first cohort reported frequent kidney stone formation. Following lumasiran treatment, the frequency of kidney stones was greatly reduced.
  • Patients felt that lumasiran helped relieve some of their symptoms such as bone pain, lowered mobility, nausea, and appetite loss.

About Primary Hyperoxaluria type 1 (PH1)

AGXT gene mutations cause primary hyperoxaluria type 1 (PH1), a rare disorder which mainly affects the kidneys. Normally, AGXT tells the body to create alanine-glyoxylate aminotransferase, an enzyme which breaks down glyoxylate. When glyoxylate is not broken down, it accumulates, causing the formation of too much oxalate. This can form with calcium to form calcium oxalate, which can damage kidneys and organs.

Primary hyperoxaluria type 1 (PH1) is a rare disorder that affects the kidneys. PH1 results from buildup of oxalate, which normally is filtered through the kidneys and excreted in the urine. For those with PH1, the oxalate accumulates in the kidneys and urinary tract and combines with calcium to form the main component of kidney and bladder stones (calcium oxalate). Symptoms can include:

  • Failure to thrive (in infants)
  • Stunted growth
  • Hematuria (blood in the urine)
  • Kidney and bladder stones
  • Recurrent urinary tract infections
  • Kidney damage
  • Renal failure
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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