LCFAOD News Briefs

LCFAOD patient education

Asymptomatic Diagnosis May Decrease Complications in LCFAOD

The prevalence of carnitine defects and mitochondrial long chain fatty acid oxidation disorder (LCFAOD) in 1 clinic was 4.75%, a retrospective cohort according to a recent study. The researchers set out to explore the genotypic and phenotypic spectrum of carnitine metabolism defects and mitochondrial long-chain fatty acid oxidation along with the corresponding treatment options. There…

molecule of DNA

Some Types of Hypersomnia May Share a Genetic Mutation With LCFAOD

Mutations in the carnitine palmitoyltransferase 1B (CPT1B) gene may be involved in the etiopathology of sleep disorders, increasing the risk of experiencing such disturbances in patients with this long chain fatty acid oxidation disorder (LCFAOD), according to a study recently published in Sleep. “To elucidate the details of altered fatty acid metabolism, we determined levels…

patient hospital

Rhabdomyolysis Reported by Majority of Patients With LCFAOD

Rhabdomyolysis and hospitalization are the most common historical adverse events reported by patients with long chain fatty acid oxidation disorder (LCFAOD), according to the results of a prospective, multicenter, noninterventional study. These results were presented at the International Network for Fatty Acid Oxidation Research and Management (INFORM) annual meeting that was held in Freiburg, Germany…

fibroblast cells

REN001 Linked With Increased Protein and Enzyme Activity in VLCAD Deficiency

Fibroblasts from patients with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, a type of long chain fatty acid oxidation disorder (LCFAOD), treated with REN001 have increased VLCAD protein and enzyme activity and decreased cellular stress, a new study published in Cells found.  “These results establish REN001 as a potential therapy for (VLCAD deficiency),” the authors…

NORD banners

Rare Disease Patients and Advocate to Headline NORD Conference in October

Two rare disease patients and a rare disease advocate will be the keynote speakers at the National Organization for Rare Disorders (NORD) 2022 annual rare disease conference, being held at the Marriott Marquis in Washington, DC, on October 17 and 18, 2022.   NORD announced the keynote speakers as Brittany Clayborne, MS, PsyD, a post-transplant…

fatigue

LCFAOD Has a Significant Impact on the Lives of Patients and Caregivers

Long-chain fatty acid oxidation disorder (LCFAOD) has a significant impact on patients and their caregivers, according to a new study published in Molecular Genetics and Metabolism Reports. Symptoms related to energy production are particularly impactful and limiting.  “Activities that may be considered normal for many people can prove to be very difficult or impossible for…

research

Experimental LCFAOD Therapy REN001 Appears Safe and Well Tolerated in Phase 1 Trial

REN001 is safe and well tolerated in patients with long-chain fatty acid oxidation disorder (LCFAOD), according to results from a recently completed phase 1b clinical trial.  “We are very encouraged by the results of the LCFAOD phase1b study,” Alejandro Dorenbaum, MD, chief medical officer of Reneo Pharmaceuticals, the developers of REN001, said in a press…

Chemical research

New Model Can Pinpoint Best Dosing Frequency of LCFAOD Treatment

Researchers were able to determine the pharmacokinetic characteristics of heptanoate, the most abundant and pharmacologically active metabolite of triheptanoin, in healthy people and patients with long chain fatty acid oxidation disorder (LCFAOD) using a nonlinear mixed effects model. The model could accurately estimate the elimination half-life of triheptanoin in patients with LCFAOD and be used…

ApoE protein

Study Finds Alterations in Complex Lipids Responsible for LCFAOD Symptoms

Altered compositions of several complex lipids may be involved in the progressive neurological symptoms observed in some forms of long chain fatty acid oxidation disorder (LCFAOD) including long-chain 3-hydroxyacyl-CoA deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD). The lipids identified in a recent hypothesis article published in the International Journal of Molecular Sciences include sphingomyelins…

Next post in LCFAOD News Briefs