Lumasiran response in primary hyperoxaluria was best in children, regardless of genotype

Design

Prospective real-world cohort

Population

76 patients with primary hyperoxaluria type 1 (54 children; 24 on dialysis)

Primary outcome

Oxalate response (normalisation or >30% reduction) at 3 months

Effect

73% responded; better response with younger age, no significant genotype effect

The French DAILY-LUMA cohort followed 76 patients with primary hyperoxaluria type 1, 54 of them children and 24 on dialysis, starting lumasiran, an RNA interference therapy that reduces hepatic oxalate production.

At three months, 73% met the response criterion: normalisation or a reduction of more than 30% in urinary oxalate-to-creatinine ratio, or in plasma oxalate for those with eGFR below 30. Genotype, grouped by pyridoxine responsiveness, was not significantly associated with response, though B6-sensitive forms trended lower. Younger age at diagnosis and at starting treatment were associated with better response.

This is an observational cohort in a rare disease, so numbers are small. The practical messages are to diagnose and treat early, and to continue pyridoxine in responsive genotypes alongside lumasiran rather than replacing it. Primary hyperoxaluria is underdiagnosed in India, where it often presents only at kidney failure; recurrent stones or nephrocalcinosis in a child warrant urinary oxalate measurement.

• Measure urinary oxalate in children with recurrent stones or nephrocalcinosis.
• Confirm primary hyperoxaluria genetically and check pyridoxine responsiveness.
• Continue pyridoxine in responsive genotypes after starting lumasiran.
• Reassess urinary or plasma oxalate at three, six and 12 months on treatment.

Why it matters

Earlier diagnosis may be what decides how well a transformative drug works.

Don't overread it

A small observational cohort; the genotype comparison was underpowered.

The statistics, in plain English

73% is calculated on available data, so missing measurements could shift it. Without a control group, the cohort shows response rates but not how outcomes compare with untreated patients.

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