INCREASED awareness and therapeutic advancements may be associated with a reduction in diagnosis delays of primary hyperoxalurias (PH) in France, which has clinical implications for overall prognosis according to a new retrospective study.
Increased Awareness of PH
PH are rare autosomal recessive disorders where prevalence is approximately one to three cases per million. PH increase hepatic oxalate production resulting in oxalate accumulation which causes kidney stones, nephrocalcinosis and chronic kidney disease. Prognosis of PH are primarily dependent on diagnosis delay.
Researchers referenced findings from their previous French PH study of patients diagnosed between 2015 and 2019 revealing that children had shorter diagnosis delays of PH in comparison with adults. Following this study, in 2020, the first RNA interfering therapy was approved, which elevated awareness of the disease and communication in the wider clinical and pharmaceutical community.
Reduction in Diagnosis Delays
A retrospective study assessed 62 patients (37 children) who received a positive genetic test for PH in Lyon between January 2020 and December 2024 and compared outcomes with the historical cohort. Diagnosis delay was defined as the time between the onset of first symptoms and the genetic test result, allowing researchers to evaluate changes in the timing of diagnosis over the past five years.
The cohort also included representation across all major disease subtypes, enabling a comprehensive assessment of diagnosis delays in PH type 1, type 2 and type 3. The study found a decrease in diagnosis delay in both the children and adult subgroups. When compared to adults, children continued to have shorter diagnosis delays (0.75 (1.10) versus 15 (16.21) years, p<0.05).
Clinical implications
Overall, the delay in PH diagnosis in France was halved over the study period. Authors suggested that the improvements in these delays might have been a result of therapeutic developments and overall increased awareness of PH.
Given that prognosis of PH is primarily dependent on diagnosis delays, early diagnosis of these ultra-rare diseases might allow for earlier management thus improving prognosis.
Reference
Cabezas L et al. Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias. Orphanet J Rare Dis. 2026;DOI:10.1186/s13023-026-04463-7.
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