Docosahexaenoic acid therapy in peroxisomal diseases

Study answer

What this study found

DHA supplementation increased blood DHA levels but did not improve visual function, growth, or peroxisomal biochemical abnormalities. ERG outcomes showed no between-group difference (p = 0.813), and treatment effects were not significant for weight Z score (p = 0.824), height Z score (p = 0.147), C26:0 (p = 0.452), or plasmalogens (p = 0.981). The only clear biochemical change was a large rise in DHA levels in the treated group, from 5.31 (7.7) to 26.31 (20.8), versus 4.29 (6.4) to 6.74 (9.6) in placebo (p < 0.0001). Overall, the trial found no clinically meaningful benefit and concluded…

Study & population

Single-center randomized controlled trial at Johns Hopkins Hospital in Baltimore, Maryland, enrolling children with peroxisome assembly disorders, including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.

Intervention

Children in the active arm received oral docosahexaenoic acid (DHA) triglyceride 100 mg/kg/day plus arachidonic acid (AA) triglyceride 100 mg/kg/day, given daily for 1 year and mixed with food or infant formula.

Key limitation

Small, rare-disease trial with limited sample size and incomplete per-arm analyzed counts reported.

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Original abstract