Treatment with Bezafibrate and Nicotinamide Riboside Temporarily Stabilizes Cardiovascular Health in Complex I Deficiency: Case Report
Objectives
To evaluate the effects of high-dose bezafibrate and NR administration in treating an infant with mutations in the ACAD9 gene, resulting in ACAD9-related complex I deficiency.
Journal
Mitochondrion
Key Outcomes
- The infant initially presented with severe symptoms, including critical lactic acidosis and cardiomyopathy, and showed no clinical response to riboflavin or coenzyme Q therapy.
- Subsequent treatment with high doses of bezafibrate and nicotinamide riboside resulted in notable metabolic improvements and some cardiac benefit, although long-term follow-up showed fatal progression of cardiomyopathy.
Duration
Duration is unclear. For a comprehensive overview of the NR dosing protocol and the administration of other compounds, please refer to the publication.
Dose
600 mg*
*NR was administered via nasogastric tube, starting with 300 mg on Day 1 and increasing to 600 mg on Day 2 and thereafter.
Study Design
Retrospective, single-patient, clinical case study of a 6-month old infant with ACAD9-related complex I deficiency