Latest News
The Use of Data Science Could Accelerate Rare Disease Research
Treat Rare Diseases With the Same Urgency as COVID, Expert Panel Urges
Cerebral Malformations in an Adolescent With Infantile-Onset CPT II Deficiency
Genetic Testing Important for Symptomatic LCFAOD Patients of All Ages
Using an Acylcarnitine Ratio May Improve LCFAOD Diagnosis
Newborn Testing Reveals Higher Incidence of Fatty Acid Disorders
The Comorbidities of LCFAOD
Insights Into the Cardiac Consequences of FAO Deficiency
A Case of LCHAD Presenting as Retinitis Pigmentosa
Latest Clinical Trials
Experience of Using Lipano in Children With Fatty Acid Oxidation Disorders
July 1, 2021
A Study of the Safety of REN001 in Patients With Fatty Acid Oxidation Disorders
July 1, 2021
Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program
July 1, 2021
Features
Two-Day Virtual Conference Will Explore Fatty Acid Oxidation Disorders
The world’s signature academic event for scientists who study fatty acid oxidation disorders (FAODs) is scheduled to take place virtually October 27-28, 2021. The two-day annual conference is hosted by INFORM, the International Network for Fatty Acid Oxidation Research and Management. In previous years, 100 to 200 people have attended the meeting, said Jerry Vockley, MD, PhD,…
Israel Emerges as Global Powerhouse in Rare Disease Research
TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
Improving the Lives of Patients With LCFAOD
NOVATO, California — Not long ago, most people with long-chain fatty acid oxidation disorder (LCFAOD) had few options for treatment other than snacking on low-fat, high-carbohydrate nutrients every 2 to 6 hours to prevent liver damage. But that has changed in the last 12 months. Triheptanoin (Dojolvi®) on June 30, 2020, became the first and…
NORD Recognizes Progress in Fight Against Rare Disease With 2021 Rare Impact Awards
Under COVID-19’s lingering shadow, the National Organization of Rare Disorders (NORD) has presented its 2021 Rare Impact Awards to 24 pharmaceutical firms, researchers, politicians, and nonprofit groups for their efforts over the past year on behalf of patients with such illnesses. The virtual ceremony was hosted by John Whyte, MD, MPH, chief medical officer at WebMD, with commentary…
FDA, CDC Urge COVID-19 Vaccines for Rare Disease Patients on NORD Webinar
As the super-contagious Delta variant of COVID-19 sweeps across the globe, driving up infection rates as well as deaths, top US health officials are urging everyone 12 and older — including the country’s 30 million or so rare disease patients — to get vaccinated quickly. Some 185 million people have been infected, and nearly 4…
LCFAOD Clinical Insights
How Knowledge of Fatty Acid Oxidation Guides Treatment of LCFAOD
How does our comprehension of fatty acid oxidation impact the management of long chain fatty acid oxidation disorder?
Reviewing the Benefits of Triheptanoin in Long Chain Fatty Acid Oxidation Disorder
Triheptanoin is clinically promising for LCFAOD, although challenges remain in quantifying its effects as a reliable biochemical marker.
Current Approaches to Treating Long Chain Fatty Acid Oxidation Disorder
Long chain fatty acid oxidation disorder (LCFAOD) is a rare and life-threatening disease that is inherited in an autosomal recessive manner. It impairs the body’s production of energy, which leads to chronic energy insufficiency and injury to the organs that depend on it. Although LCFAOD is screened for in newborns, current management strategies still too…
Carrier Screening for Autosomal Recessive and X-Linked Conditions
Medicine as it is understood today is an umbrella term that covers the detection, diagnosis, management, and prevention of disease. It is, rightly so, akin to a broad kitchen in which there can never be too many cooks. As physicians debate how best to treat genetic rare diseases, (such as Duchenne muscular dystrophy, spinal muscular…
Rare Care Podcast
Perspectives on Long Chain Fatty Oxidation Disorder With Dr. Jerry Vockley
Ultragenyx CMO Dr. Camille Bedrosian Discusses the First FDA-Approved Treatment for LCFAOD”
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