Dojolvi (triheptanoin) / Ultragenyx 
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 30 Diseases   10 Trials   10 Trials   301 News 


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  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    ANAPLEROTIC POTENTIAL OF MEDIUM-CHAIN FATTY ACIDS IN MDH2-DEFICIENT CELLS (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_600;    
    However, in MDH2-deficient cells, only heptanoate is anaplerotic, possibly due to low levels of mitochondrial oxaloacetate. Therefore, triheptanoin may be a viable treatment option for MDH2-deficient patients.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Review, Journal:  Case for supporting astrocyte energetics in glucose transporter 1 deficiency syndrome. (Pubmed Central) -  May 20, 2024   
    Initiation date: May 2024 --> Aug 2024 Triheptanoin, an anaplerotic but also gluconeogenic uneven MCT, may be another potential addition to ketogenic diets, although maintenance of "ketosis" can be difficult...In conclusion, although it remains difficult to assess impaired astrocytic energy metabolism in
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Trial completion:  Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D (clinicaltrials.gov) -  Jan 17, 2024   
    P2,  N=10, Completed, 
    Here, we explore this possibility and review the clinical and preclinical evidence where available. Active, not recruiting --> Completed
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Response to Intravenous Citrate on a Patient on CKRT with Pyruvate Carboxylase Deficiency Type B (Severe Neonatal Form) (MTCC - Exhibit Halls DE) -  Jan 10, 2024 - Abstract #ACMG2024ACMG_1194;    
    This patient highlights the severity of PCD type B, the diagnostic challenges in the first few days of life, how the response to citrate provided a clue for the suspicion of PCD while waiting for genetic results and provides clear evidence of marked biochemical citrate responsiveness in some PCD patients. The suspicion of PCD allowed us to offer citrate and aspartic acid supplementation that are significant steps in the therapeutic approach of PCD type B. Due to the severe presentation, in this case, these supplements did not change the final outcome.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Journal:  Heptanoate Improves Compensatory Mechanism of Glucose Homeostasis in Mitochondrial Long-Chain Fatty Acid Oxidation Defect. (Pubmed Central) -  Nov 18, 2023   
    To prevent hypoglycemia, triheptanoin-a triglyceride composed of three heptanoates (C7) esterified with a glycerol backbone-can be used as a dietary treatment, since it is metabolized into precursors for gluconeogenesis...These data suggest that the increased contribution of gluconeogenesis to the overall glucose production in VLCAD mice increases the need for gluconeogenesis substrate, thereby avoiding hypoglycemia. Heptanoate is a suitable substrate to induce glucose production in mitochondrial FAO defect.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Review, Journal:  Metabolic aspects of genetic ion channel epilepsies. (Pubmed Central) -  Aug 18, 2023   
    The extent to which brain metabolism is affected in people with Dravet syndrome, KCNA1 epilepsy and the models thereof still requires clarification. This requires more experiments that yield functional insight into metabolism.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Review, Journal:  Fifty years of research on mitochondrial fatty acid oxidation defects: the remaining challenges. (Pubmed Central) -  Aug 2, 2023   
    It also deals with new treatments under consideration in FAOD, including triheptanoin and similar anaplerotic substrates, ketone body treatments, RNA and gene therapy approaches...The ultimate goal would be to identify all the patients born with FAOD and ensure for them the best possible quality of life. TAKE HOME MESSAGE: Tentative hypotheses to improve the diagnosis and the treatment of fatty acid oxidation defects.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Trial completion, Trial completion date:  A-TC7: Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis (clinicaltrials.gov) -  Jul 20, 2023   
    P2a/2b,  N=30, Completed, 
    TAKE HOME MESSAGE: Tentative hypotheses to improve the diagnosis and the treatment of fatty acid oxidation defects. Active, not recruiting --> Completed | Trial completion date: May 2024 --> Jul 2023
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Cardiac Transplantation in Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency with severe cardiomyopathy: a case report (Exhibitions Hall (ICC)) -  Jul 11, 2023 - Abstract #SSIEM2023SSIEM_450;    
    Perioperative management included iv glucose infusion and serial blood sample analysis; rocuronium, ketamine and midazolam were used for anesthesia...Following transplantation, he restarted dietary protocol and triheptanoin, and immunosuppression with prednisolone, tacrolimus and mycophenolate mofetil... Cardiac transplantation was successful in our patient, with no significant cardiac or systemic complications at 9 months
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Medium-chain acylcarnitines target muscular phenotypes in long-chain fatty acid oxidation disorders (Oren 4 (ICC)) -  Jul 6, 2023 - Abstract #SSIEM2023SSIEM_118;    
    Medium-chain fatty acid (MCFA)-based therapies (triheptanoin) are efficacious for fatty acid oxidation disorders, but many patients still experience rhabdomyolysis...MCFA therapies may be contraindicated in patients with carnitine shuttle deficiencies. MC- carnitines may represent a new therapeutic strategy for muscle and heart.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Journal:  Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D). (Pubmed Central) -  Jun 7, 2023   
    P2
    Changes in this and the other measures allowed us to deem the two treatments compatible in the same number of individuals, or 50% of persons in significant beta-hydroxybutyrate ketosis. These results inform the development of individualized anaplerotic modifications to the ketogenic diet.ClinicalTrials.gov registration NCT03301532, first registration: 04/10/2017.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Trial completion date, Trial primary completion date:  Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) (clinicaltrials.gov) -  May 3, 2023   
    P2,  N=45, Active, not recruiting, 
    Our results confirm the long-term efficacy of triheptanoin for patients with LC-FAOD. Trial completion date: May 2023 --> Sep 2023 | Trial primary completion date: Jan 2023 --> Sep 2023
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Review, Journal:  Mitochondria in Huntington's disease: implications in pathogenesis and mitochondrial-targeted therapeutic strategies. (Pubmed Central) -  Dec 27, 2022   
    Unfortunately, conventional mitochondrial-targeted molecules, such as cysteamine, creatine, coenzyme Q10, or triheptanoin, yielded negative or inconclusive results. However, future therapeutic strategies, aiming to restore mitochondrial biogenesis, improving the fission/fusion balance, and improving mitochondrial trafficking, could prove useful tools in improving the phenotype of Huntington's disease and, used in combination with genome-editing methods, could lead to a cure for the disease.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Trial completion:  Treatment Development of Triheptanoin (G1D) (clinicaltrials.gov) -  Dec 22, 2022   
    P1,  N=12, Completed, 
    However, future therapeutic strategies, aiming to restore mitochondrial biogenesis, improving the fission/fusion balance, and improving mitochondrial trafficking, could prove useful tools in improving the phenotype of Huntington's disease and, used in combination with genome-editing methods, could lead to a cure for the disease. Active, not recruiting --> Completed
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Journal:  Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency. (Pubmed Central) -  Nov 16, 2022   
    Recent trials have reported the ability of triheptanoin to improve clinical outcomes for the severe symptoms associated with long-chain fatty acid oxidation disorders, including very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency...Addition of a PPAR agonist further exacerbated stress-related GSH-depletion and viability loss, requiring higher concentrations of fatty acids to restore GSH levels and cell viability. Both odd- and even-numbered medium-chain fatty acids efficiently protect VLCADdeficient cells against metabolic stress-induced antioxidant depletion.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Enrollment closed:  A-TC7: Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis (clinicaltrials.gov) -  Nov 14, 2022   
    P2a/2b,  N=30, Active, not recruiting, 
    Both odd- and even-numbered medium-chain fatty acids efficiently protect VLCADdeficient cells against metabolic stress-induced antioxidant depletion. Not yet recruiting --> Active, not recruiting
  • ||||||||||  Ztalmy (ganaxolone oral) / Marinus, Dojolvi (triheptanoin) / Ultragenyx
    Journal:  Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies. (Pubmed Central) -  Nov 4, 2022   
    There has been interest in using the neurosteroid ganaxolone for various genetic epilepsy syndromes, with clear efficacy in certain trials. Triheptanoin for epilepsy secondary to glucose transporter 1 ( GLUT1 ) deficiency syndrome is not clearly effective but further studies will be needed.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Trial primary completion date:  Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) (clinicaltrials.gov) -  Aug 30, 2022   
    P2,  N=45, Active, not recruiting, 
    Covariate analyses indicate that age, race, and sex did not lead to clinically meaningful changes in the exposure of heptanoate. Trial primary completion date: Jul 2022 --> Jan 2023
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Biomarker, Journal:  UHPLC-HRMS-based serum lipisdomics reveals novel biomarkers to assist in the discrimination between colorectal adenoma and cancer. (Pubmed Central) -  Aug 17, 2022   
    Of particular value, a lipid panel containing docosanamide, SM d36:0, PC 36:1e, and triheptanoin was selected as a composite candidate biomarker with excellent performance (AUC = 0.971), and the highest selected frequency to distinguish patients with CA from patients with CRC based on the support vector machine (SVM) classification model...The lipid panel could potentially serve as a composite biomarker aiding the early diagnosis of CRC. Metabolic dysregulation of FAs, PCs, and TAGs seems likely involved in malignant transformation of CA, which hopefully will provide new clues to understand its underlying mechanism.
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Journal:  A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency. (Pubmed Central) -  Jul 6, 2022   
    Patient pathology was responsive to triheptanoin supplementation. This atypical LCHADD form report should encourage the early assessment of biochemical and genetic testing as a specific management is recommended (combination with fast avoidance, low fat-high carbohydrate diet, medium-even-chain triglycerides or triheptanoin supplementation).
  • ||||||||||  Dojolvi (triheptanoin) / Ultragenyx
    Journal:  Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study. (Pubmed Central) -  May 12, 2022   
    Clinical trials revealed that triheptanoin (commercially known as Dojolvi; C7G), improved heart function and decreased hypoglycemia in long chain FAO disorders, but other symptoms including rhabdomyolysis persisted, suggesting suboptimal tissue distribution/utilization of heptanoic acid (C7) conjugates and/or rapid liver breakdown...Malate and glutamate were consistently higher in AdMC7 treated VLCAD, LCHAD, TFP, and CPT II deficient cells compared to the C7 treatment. The results provide the impetus to further evaluate and consider branched chain fatty acids as viable anaplerotic therapy for fatty acid oxidation disorders and other diseases.