BACKGROUND

Lysosomal storage disorders (LSDs) result from an accumulation of specific substrates, due to the inability to break them down leading to cellular dysfunction in multiple organs, including the heart constituting an important and treatable cause of cardiomyopathy. Given the role of oxidative stress in many inborn errors of metabolism, many studies are evaluating oxidative stress and hence the role of antioxidants in patients with LSDs.

THE AIM OF THIS STUDY

was to study the possible effects of Coenzyme Q10 as a cardioprotective and an antioxidant drug in patients with LSDs.

METHODS

This study was a prospective case-control study conducted on 30 patients with LSDs and an equal number of healthy subjects of matched age and sex served as a control group at the unit of Medical Genetics and inborn errors of metabolism at the Pediatric Department of Tanta University Hospital. All subjects included were subjected to full history taking, complete physical examination, assessing serum level of N-terminal pro-brain natriuretic peptide (NT-proBNP) & serum malondialdehyde (MDA), along with comprehensive cardiac evaluation that was done using tissue doppler imaging and speckling tracking echo. Then the patient group was subdivided into two subgroups, half of the patients received Co enzyme Q10 (CoQ10) while the other half received a placebo for 24 weeks followed by cardiac evaluation and reassessment of serum MDA and NT-proBNP for both patient subgroups.

RESULTS

Patients with LSDs had significantly higher levels of serum MDA than controls denoting higher oxidative stress, P-value < 0.001. CoQ10 resulted in significant beneficial reduction of serum MDA (15%) &NT-proBNP (30%) in the group of patients who received CoQ10, P-value < 0.001 and improvement of cardiac functional parameters in patients with LSDs.

CONCLUSION

These findings suggest that CoQ10 may have a role in reducing oxidative stress and so may prevent the development of cardiomyopathy in patients with LSDs.

TRIAL REGISTRATION

This study was performed after approval from the Ethical Committee, Faculty of Medicine, Tanta University, Egypt (approval code 33255/07/19) and after obtaining written informed consent from children guardians. Also, this trial was registered on Pan African clinical trials registry with the number PACTR, 'PACTR202107466690046'. Registered 04 July 2021.