Tier 4 — mechanistic

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis

Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF
Mitochondrion 2024 78; 101905

Bibliography

PubMed
PMID 38797357
PubMed Central
PMC11390326
DOI
10.1016/j.mito.2024.101905
Funding
Indexed grant support includes NHLBI NIH HHS, NIH HHS, NINDS NIH HHS. The complete funding declaration is not specified in the accessible abstract.
Competing interests
The publication provides individual declarations of financial or nonfinancial interests; consult the source for the complete disclosures.

Study snapshot

DesignClinical case report
ModelHuman participants
SampleOne infant with ACAD9-related complex I deficiency
InterventionNR combined with high-dose bezafibrate after riboflavin nonresponse
DurationTreatment during infancy; death at age 10.5 months
EndpointsLactate; cardiac function; clinical course

What the study showed, in plain terms

Combination treatment was followed by temporary improvement in cardiomyopathy and biochemical markers; the child later died during infection-associated cardiac failure.

Key findings

Combination treatment was followed by temporary improvement in cardiomyopathy and biochemical markers; the child later died during infection-associated cardiac failure.

What this study can and cannot tell us

Single case with multiple therapies and a fatal outcome. No NR-specific treatment effect or durable disease control can be established.

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Editorial review

Reviewed by the Biohack Blueprint research team

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Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology