Dojolvi (triheptanoin) / University of Queensland, Ultragenyx - LARVOL DELTA

Study to Evaluate the Use of Triheptanoin in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) (clinicaltrials.gov) - P2 | N=24 | Recruiting | Sponsor: Jerry Vockley, MD, PhD | Trial completion date: Mar 2027 ➔ Dec 2027 | Initiation date: Nov 2025 ➔ Feb 2026 | Trial primary completion date: Jan 2027 ➔ Jun 2027

Trial completion date • Trial initiation date • Trial primary completion date • Hypoglycemia • Metabolic Disorders

The Challenges of Introducing Triheptanoin in a Child with Carnitine Acylcarnitine Translocase Deficiency (CACT) (SSIEM 2023) - No abstract available

Clinical

Triheptanoin use in TANGO2-Related Disease (RD) (SSIEM 2023) - No abstract available

Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin (SSIEM 2023) - No abstract available

Preclinical • ACADM

Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin (SSIEM 2023) - No abstract available

Preclinical • ACADM

Triheptanoin use in TANGO2-Related Disease (RD) (SSIEM 2023) - No abstract available

Triheptanoin use in TANGO2-Related Disease (RD) (SSIEM 2023) - No abstract available

Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin (SSIEM 2023) - No abstract available

Preclinical • ACADM

Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin (SSIEM 2023) - No abstract available

Preclinical • ACADM

Cardiac Transplantation in Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency with severe cardiomyopathy: a case report (SSIEM 2023) - " 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’ follow-up, suggesting it may be a feasible option in the treatment of patients with LCHAD and severe refractory cardiomyopathy."

Case report • Clinical • Acute Kidney Injury • Anesthesia • Cardiomyopathy • Cardiovascular • Congestive Heart Failure • Heart Failure • Inherited Retinal Dystrophy • Metabolic Disorders • Myositis • Retinal Disorders • Retinitis Pigmentosa • Transplantation

Triheptanoin use in TANGO2-Related Disease (RD) (SSIEM 2023) - No abstract available

Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin (SSIEM 2023) - No abstract available

Preclinical • ACADM

New therapies for MCADD / C7 (Dojolvi) (SSIEM 2023) - No abstract available

Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin (SSIEM 2023) - "MCADD fibroblasts exhibited decreased IF staining with anti-succinyllysine that increased with C7 and MBCFAs treatments. Acadm-/- mouse liver showed decreased Ksu IF staining that was reversed by treatment with C7G and consistent with the observed reversal of glycogen depletion and lipid accumulation. MTCO1 antigen severely decreased in Acadm-/- mice was improved by treatment."

Preclinical • Hypoglycemia • ACADM

Nutrition, Exercise and Growth in 17 Young Greek Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency (SSIEM 2023) - "Patients on triheptanoin therapy were excluded from this study... There is little nutritional information for children with CPT II throughout childhood and adolescence. The average weight and height z scores were normally distributed in our patients and we believe that children shouldn’t avoid normal exercise activities and will benefit from a tailored pre- and post- workout plan. Patients can follow a normal diet with no fat restriction, especially when they are well."

Clinical

Correlation between cardiopulmonary exercise tests and biochemical parameters in patients affected by fatty acid oxidation disorders (SSIEM 2023) - "In a linear multivariate regression model, dQ/DVO2 was positively associated with the severity score (P=0.008) whereas a tendency was observed for triheptanoine as a negative predictor(P=0.074). CPETs might be a useful tool in FAOD to monitor the disease, especially in CPT2D where it could reflect the toxicity of long-chain acylcarnitine/acyl CoA accumulation on mitochondrial functions."

Clinical • Metabolic Disorders

Medium-chain acylcarnitines target muscular phenotypes in long-chain fatty acid oxidation disorders (SSIEM 2023) - "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."

Metabolic Disorders

Dojolvi product revenues were $24.3 million, up 14%, driven by new patient demand. (TradingView)

Sales • Amyotrophic Lateral Sclerosis • Epilepsy • Huntington's Disease

Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025. (PubMed, DNA Repair (Amst)) - "The implications of these roles of ATM in protecting the genome/cell and the development of new technology, such as organoids, were widely discussed in the clinical setting of patients with A-T. An important contribution to the meeting was the description of pathways /mechanisms that have led to the development of therapeutic approaches for A-T including the use of specific antisense oligonucleotides to restore ATM function in patients; delivery of full-length ATM cDNA to A-T cells; eDSP (formerly EryDex) that encapsulates dexamethasone sodium phosphate in a patient's own red blood cells and the use of small molecules (triheptanoin, nicotinamide riboside and N-acetyl leucine) to correct mitochondrial and metabolic function."

Journal • Ataxia • CNS Disorders • Immunology • Metabolic Disorders • Movement Disorders • Primary Immunodeficiency

Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders. (PubMed, JCI Insight) - "Long chain fatty acid oxidation disorders (LC FAODs) cause energy deficits in heart and skeletal muscle that are only partially corrected by current medium chain lipid therapies such as triheptanoin...A single oral dose significantly enhances grip strength and treadmill endurance while attenuating lactic acidosis in two mouse models of LC-FAODs. Thus, medium chain acylcarnitines overcome a previously unrecognized metabolic bottleneck in LC FAOD muscle and may represent an alternative to triglyceride based therapies for bioenergetic disorders."

Journal • Preclinical • Metabolic Disorders

Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) (clinicaltrials.gov) - P2 | N=8 | Suspended | Sponsor: Jerry Vockley, MD, PhD | Recruiting ➔ Suspended

Trial suspension • Hypoglycemia • Metabolic Disorders

A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD (clinicaltrials.gov) - P3 | N=69 | Active, not recruiting | Sponsor: Ultragenyx Pharmaceutical Inc | Recruiting ➔ Active, not recruiting

Enrollment closed • Metabolic Disorders • Pediatrics

TPI deficiency: A case report and review of the literature. (PubMed, Mol Genet Metab) - "Ketogenic diet and triheptanoin were effective in treating seizures in a TPI mutant Drosophila, known as TPIsugarkill, although clinical data in humans is lacking. Additionally, bone marrow transplant has been shown to improve the hematologic phenotype in mice and has been done in an isolated number of patients. While there are no proven therapies available at this time, we hope this review will lead the discussion to consider future therapeutic options."

Journal • Review • Bone Marrow Transplantation • CNS Disorders • Epilepsy • Hematological Disorders • Respiratory Diseases • Transplantation

Study to Evaluate the Use of Triheptanoin in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) (clinicaltrials.gov) - P2 | N=24 | Recruiting | Sponsor: Jerry Vockley, MD, PhD

New P2 trial • Hypoglycemia • Metabolic Disorders

Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) (clinicaltrials.gov) - P2 | N=8 | Recruiting | Sponsor: Jerry Vockley, MD, PhD | Trial completion date: Jul 2027 ➔ Jul 2028 | Trial primary completion date: Mar 2027 ➔ Mar 2028

Trial completion date • Trial primary completion date • Hypoglycemia • Metabolic Disorders