LCFAOD News Briefs

clinicaltrial

New Clinical Trial for LCFAOD Assesses Oral Ketones During Exercise

A new clinical trial assessing whether an oral ketone beverage is safe and well-tolerated during moderate-intensity exercise and whether it is able to raise blood ketones to normal levels in patients with long chain fatty acid oxidation disorders (LCFAODs) has just opened. The early phase 1 trial aims to recruit 5 participants with a confirmed…

mouse in lab

Triheptanoin Superior to IMB-203 in Study of VLCAD Deficiency Model

Treatment with triheptanoin, also known as C7, could be effective in very long-chain acyl-coenzyme A (CoA) dehydrogenase (VLCAD) deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), according to results presented at the 2022 lecture series of the International Network for Fatty Acid Oxidation Research and Management (INFORM). The current therapeutic options for VLCAD…

global

Proposed Model Estimates Prevalence of LCFAOD

A modeling methodology for estimating the prevalence of rare diseases has been proposed and demonstrated for long chain fatty acid oxidation disorder (LCFAOD). The proposed model, published in Advances in Therapy, utilizes newborn screening reports and applies them to key modifiers. The modifiers include changes in population growth over time and variable standardization rates of…

ventricular

Triheptanoin Improves Left Ventricular Function in LCFAOD

Triheptanoin improves left ventricular function in patients with long chain fatty acid oxidation disorders (LCFAODs) who have a left ventricular ejection fraction (LVEF) of 55% or less, according to a study presented at the 2022 lecture series of the International Network for Fatty Acid Oxidation Research and Management (INFORM) by Kathryn Ray, PhD, a biostatistician…

genetic testing

Confirming LCFAOD Diagnosis Genetically Is Important, Study Says

Variants of the HADHA and HADHB genes lead to different phenotypes in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency, 2 types of long chain fatty acid oxidation disorders (LCFAODs), according to a new study published in Molecular Genetics and Metabolism Reports. Therefore, it is of great importance to genetically confirm…

dietary

Dietary Interventions Improve Neuropathy in LCFAOD Study

Neuropathy might be responsive to dietary interventions at a very early stage of the disease in patients with mitochondrial trifunctional protein (TFP) deficiency, a type of long chain fatty acid oxidation disorder (LCFAOD), according to a new study published in JIMD Reports.  A common complication in patients with TFP deficiency and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, another…

Gene therapy concept

AAVs Appear to Be Effective Vectors for Gene Therapy in LCFAOD

Gene therapy using an adeno-associated virus (AAV) appears to amend important abnormalities in patients with long chain fatty acid oxidation disorder (LCFAOD), according to an article recently published in Molecular Therapy. Specific genetic therapy for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, a form of LCFAOD, with AAV resulted in improvement of laboratory test results, evident…

sick baby

Two Cases of LCFAOD Presenting With Different Types of Cardiomyopathy

Two cases of very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a type of long chain fatty acid oxidation disorder (LCFAOD), presented at different ages with different forms of cardiomyopathy. The case report, published in Case Reports in Cardiology, discussed one patient (Patient 1) who presented with cardiogenic shock and dilated cardiomyopathy (DCM), while the second…

group

People With Rare Diseases Report Facing Stigma, Poor Quality of Life

People with rare diseases who live in the United States have a poor health-related quality of life and experience significant stigma, according to a study published in the Orphanet Journal of Rare Diseases. A rare disease in the United States can be defined as any disease in which the prevalence is less than 200,000 cases.…

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