What are the latest advances in Primary Hyperoxaluria?

Primary Hyperoxaluria (PH) has seen a paradigm shift in treatment, moving from supportive care to precision medicine through RNA interference (RNAi) therapies. These new treatments, such as lumasiran, specifically target the liver's production of oxalate, offering hope for patients to stabilize renal function and prevent systemic complications.

What are the most recent breakthroughs in Primary Hyperoxaluria?

The most significant advancement in Primary Hyperoxaluria is the approval of RNA interference therapeutics. These drugs work by silencing the glycolate oxidase gene, effectively reducing the hepatic production of oxalate at its source. This precision approach represents a major milestone for patients with Primary Hyperoxaluria type 1, who previously relied almost exclusively on aggressive hydration, vitamin B6, or combined liver-kidney transplantation.

What research is currently underway for Primary Hyperoxaluria?

Current research efforts are focused on expanding therapeutic options and improving long-term outcomes for all types of Primary Hyperoxaluria. Clinical investigation is currently evaluating:

• RNAi Therapies: Ongoing trials (such as those for nedosiran) are testing the efficacy of silencing the lactate dehydrogenase A (LDHA) gene to treat all three known genetic types of Primary Hyperoxaluria.


• Gene Editing: Early-stage preclinical research is exploring CRISPR/Cas9 technology to potentially correct the underlying genetic mutations in the liver.


• Biomarker Development: Researchers are refining plasma oxalate testing, which is more reliable than traditional urine testing for patients with advanced kidney disease.

How can patients participate in research?

Participation in clinical trials is vital for the advancement of Primary Hyperoxaluria treatments. Patients can find active studies by searching "Primary Hyperoxaluria" on ClinicalTrials.gov. Additionally, the Oxalosis & Hyperoxaluria Foundation (OHF) maintains a registry that connects patients with research opportunities and provides updates on emerging therapies.

Next steps

• Consult with a nephrologist or metabolic specialist familiar with Primary Hyperoxaluria to discuss if you are a candidate for current RNAi therapies.


• Join the DiseaseMaps.org community to connect with other patients and share your experiences.


• Register with the Oxalosis & Hyperoxaluria Foundation to stay informed about upcoming clinical trials and patient advocacy efforts.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the guidance of your physician regarding any medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Primary Hyperoxaluria


• Orphanet: Primary Hyperoxaluria


• Oxalosis & Hyperoxaluria Foundation (OHF): Clinical Research Updates


• ClinicalTrials.gov: Current studies for Primary Hyperoxaluria