Evidence map›Paper›PMID 38797357›Full record

ArticleMitochondrion2024

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

Johan L K Van Hove, Marisa W Friederich, Daniella H Hock, David A Stroud, Nikeisha J Caruana, Uwe Christians, Björn Schniedewind, Cole R Michel, Richard Reisdorph, Edwin D J Lopez Gonzalez and 8 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Mitochondrion, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Article
  2. Unusual Variants inRare (Amsterdam, Netherlands) · 2026
    Article
  3. Case Report: Homozygous mutation in theFrontiers in medicine · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Johan L K Van HoveDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. Electronic address: Johan.Vanhove@childrenscolorado.org.
Marisa W FriederichDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.
Daniella H HockDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
David A StroudDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Nikeisha J CaruanaDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia.
Uwe ChristiansiC42 Clinical Research and Development, Department of Anesthesiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Björn SchniedewindiC42 Clinical Research and Development, Department of Anesthesiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Cole R MichelDepartment of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Richard ReisdorphDepartment of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Edwin D J Lopez GonzalezDepartment of Diabetes and Cancer Metabolism, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA.
Charles BrennerDepartment of Diabetes and Cancer Metabolism, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA.
Tonia E DonovanDepartment of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.
Jessica C LeeDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
Kathryn C ChatfieldDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pediatrics, Section of Cardiology, University of Colorado, Aurora, CO, USA.
Austin A LarsonDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
Peter R BakerDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
Shawn E McCandlessDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
Meghan F Moore BurkDepartment of Physical Medicine and Rehabilitation, Children's Hospital Colorado, 13121 East 16(th) Avenue, Aurora, CO, USA.

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI VAN HOVE, JOHAN L · 2011 to 2023
$17.5M
The SIRT1-Gpd1L-NAD+ interactome in regulation of the Neuronal Sodium Channel: Implications for Cognitive Impairment of Alzheimer’s DementiaR01HL147545 · NHLBI · UNIVERSITY OF IOWA · PI BRENNER, CHARLES M, IRANI, KAIKOBAD J. · 2019 to 2022
$2.9M
Fusion Lumos Orbitrap System for Quantitative Proteomics and Metabolomics ApplicationsS10OD028538 · OD · UNIVERSITY OF COLORADO DENVER · PI REISDORPH, NICHOLE A · 2021 to 2021
$1.3M
NHLBI NIH HHS R01 HL147545NIH HHS S10 OD028538NINDS NIH HHS U54 NS078059
6 · The paper itself

Abstract

Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy unresponsive to riboflavin have high mortality. A six-month-old infant presented with riboflavin unresponsive lactic acidosis and life-threatening cardiomyopathy. Treatment with high dose bezafibrate and nicotinamide riboside resulted in marked clinical improvement including reduced lactate and NT-pro-brain type natriuretic peptide levels, with stabilized echocardiographic measures. After a long stable period, the child succumbed from cardiac failure with infection at 10.5 months. Therapy was well tolerated. Peak bezafibrate levels exceeded its EC

Indexed as

Acidosis, LacticAcyl-CoA DehydrogenasesBezafibrateCardiomyopathiesNiacinamidePyridinium CompoundsBiomarkersDrug CombinationsEchocardiographyHumansInfantMaleProteomicsACAD9 protein, humanAcyl-CoA DehydrogenasesBezafibrateBiomarkersDrug CombinationsNiacinamidenicotinamide-beta-ribosidePyridinium CompoundsACAD9 disorderBezafibrateCardiomyopathycomplex I deficiencyMitochondrial diseaseNicotinamide ribosideTreatment

Identifiers

PMID38797357
PMCPMC11390326

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.