Daijiworld Media Network - Paris

Paris, Jul 9: Diagnosis delays for primary hyperoxalurias (PH), a group of rare inherited kidney disorders, have been significantly reduced in France over the past five years, according to a new retrospective study. Researchers say the improvement is likely linked to greater disease awareness and advances in treatment, both of which could lead to better patient outcomes.

Primary hyperoxalurias are rare autosomal recessive disorders, affecting an estimated one to three people per million. The condition causes excessive production of oxalate in the liver, leading to the accumulation of calcium oxalate crystals that can result in recurrent kidney stones, nephrocalcinosis and chronic kidney disease. The long-term prognosis largely depends on how early the disease is diagnosed.

Researchers noted that an earlier French study involving patients diagnosed between 2015 and 2019 had shown that children were diagnosed much sooner than adults. In 2020, the approval of the first RNA interference (RNAi) therapy for PH type 1 increased awareness of the disease among healthcare professionals and the pharmaceutical community.

The latest study reviewed data from 62 patients, including 37 children, who received a genetically confirmed diagnosis of PH at a centre in Lyon between January 2020 and December 2024. The findings were compared with those of the earlier patient group.

Diagnosis delay was measured as the period between the appearance of the first symptoms and confirmation through genetic testing. The study included patients with PH types 1, 2 and 3, allowing researchers to evaluate diagnostic trends across all major forms of the disease.

The researchers found that diagnosis delays had declined in both children and adults. However, children continued to receive diagnoses much earlier than adults, with an average delay of 0.75 years compared to 15 years in adults, a difference that was statistically significant.

Overall, the study found that the average delay in diagnosing primary hyperoxalurias in France had been reduced by nearly half during the study period.

The researchers attributed the improvement to increased awareness of the disease and the availability of newer therapies. They noted that earlier diagnosis allows timely treatment and management, which could significantly improve the prognosis for patients with these ultra-rare genetic disorders.