Docosahexaenoic acid therapy in peroxisomal diseases
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.
View source
Open PDFOriginal abstract
Objectives: Peroxisome assembly disorders are genetic disorders characterized by biochemical abnormalities, including low docosahexaenoic acid (DHA). The objective was to assess whether treatment with DHA supplementation would improve biochemical abnormalities, visual function, and growth in affected individuals. Methods: This was a randomized, double-blind, placebo-controlled trial conducted at a single center. Treatment groups received supplements of DHA (100 mg/kg per day). The primary outcome measures were the change from baseline in the visual function and physical growth during the 1 year follow-up period. Results: Fifty individuals were enrolled and randomized. Two were subsequently excluded from study analysis when it was determined that they had a single enzyme disorder of peroxisomal β oxidation. Thirty-four returned for follow-up. Nine patients died during the trial of their disorder, and 5 others were lost to follow-up. DHA supplementation was well tolerated. There was no difference in the outcomes between the treated and untreated groups in biochemical function, electroretinogram, or growth. Improvements were seen in both groups in certain individuals. Conclusions: DHA supplementation did not improve the visual function or growth of treated individuals with peroxisome assembly disorders. Classification of evidence: This interventional study provides Class II evidence that DHA supplementation did not improve the visual function or growth of treated individuals with peroxisome assembly disorders during an average of 1 year of follow-up in patients aged 1 to 144 months.