Primary hyperoxaluria: 2026 so far

Routine-care reports helped show what early responses can look like, including differences by age.

Routine-care data from France reported that oxalate measurements often fell by 3 months after starting lumasiran in PH1, with children showing better early response than adults. In the same cohort, grouping people by genotype categories linked to vitamin B6 sensitivity did not clearly predict early response (a trend was described but not statistically significant). Earlier in the months covered, individual case reports also described oxalate improvement after starting lumasiran in advanced disease settings. This helps set expectations for what short-term lab changes may look like after starting lumasiran, and it highlights that age was the factor most tied to meeting early response targets in that one cohort.

Research covered in: September 2026, February 2026, January 2026

Reports described both kidney-only pathways that include RNAi treatment and combined liver-kidney transplant experiences.

In the months covered, several reports gave concrete examples of transplant pathways in PH1. Case reports described kidney-only transplantation after or alongside lumasiran with good early graft function and/or stable kidney function reported through 12 months. They also reported that stones, stent blockage, and oxalate deposits in the graft could still happen, sometimes getting worse around rejection episodes. Separate small reports described combined liver-kidney transplantation: one individual PH1 case noted stopping dialysis with stable kidney function in short follow-up, and a small pediatric series with mixed transplant indications, including PH1, reported all four children alive with functioning liver and kidney grafts at follow-up despite early complications (infection, bleeding, rejection) that were treated. Together, these reports show that transplant planning and close follow-up after transplant (including watching for oxalate-related graft findings and rejection) remained a major focus, with most evidence coming from small series and case reports.

Research covered in: February 2026, May 2026, June 2026, August 2026

The months covered included repeated reminders that PH can progress and can involve organs outside the kidneys.

In the months covered, observational cohorts/registries and multiple case reports reinforced that primary hyperoxaluria can progress beyond stones to kidney failure and systemic oxalate deposition (oxalate buildup in organs throughout the body). An adult cohort analysis reported PH as the only independent predictor of end-stage kidney disease (kidney failure needing dialysis or transplant) compared with other inherited stone disorders, and pediatric reports/registries described many children reaching kidney failure, dialysis, and reported mortality in one national registry. Case reports added examples of systemic oxalosis (including bone/joint imaging signals interpreted as repair responses), ocular persistence after transplant in reviewed cases, and heart involvement documented in siblings. This supports the idea that monitoring and care planning often need to consider both kidney outcomes and possible oxalate burden outside the kidneys, especially when kidney function is impaired.

Research covered in: April 2026, May 2026, June 2026, July 2026, August 2026

One dataset suggested faster genetic confirmation, while other reports pointed to ongoing testing bottlenecks.

So far in 2026, reports pointed to faster genetic confirmation in at least one national experience, while system-level bottlenecks were still described. A French report found time to genetic confirmation decreased compared with 2015 to 2019, with children diagnosed faster than adults. An international survey across 43 countries identified plasma oxalate testing (a blood test measuring oxalate levels) as a frequent limiting step and described wide variation in how centers use RNAi therapies, dialysis, and transplant strategies. Population-specific genetics also shaped diagnostic approaches: a Moroccan series reported high diagnostic yield using an exon-focused AGXT workflow consistent with a founder-variant pattern, and a Tunisian report described a founder effect in PH1. This helps explain why the path to a diagnosis, and which tests are used, can look very different depending on the country and the specific center.

Research covered in: July 2026, September 2026, April 2026

Cell and animal studies explored several ways to lower oxalate-related measures, but none provided human results.

In the months covered, several preclinical studies (early research in cells or animals, not people) tested different strategies to reduce oxalate-related measures, without human efficacy data. In PH1 models, an oral compound lowered urinary oxalate and reduced kidney crystal buildup in mice (with no clear liver toxicity signals reported in that short study). Separate work reported liver-targeted gene therapy restoring liver AGT and normalizing urinary oxalate in PH1 mice with less kidney crystal buildup and no liver toxicity observed in their measurements. AAV-based gene editing aimed at disrupting HAO1 lowered urine oxalate in PH1-model mice and was reported as well tolerated with dose-dependent liver editing in rhesus macaques; in PH2 mice, N-propargylglycine (N-PPG) lowered urine oxalate and was linked to fewer stones and less kidney injury. For now, these results mainly map out research directions, since benefits and risks in people were not tested in these studies.

Research covered in: January 2026, March 2026, April 2026, June 2026