What are Long-Chain Fatty Acid Oxidation Disorders?
A SURVEY OF FAOD PATIENTS IS BEING CONDUCTED. CLICK FOR MORE INFO
Long-chain fatty acid oxidation disorders (FAOD) are a group of autosomal recessive conditions that prevent the body from breaking down long-chain fatty acids into energy.
Beginning from early in life to as late as teenage or adulthood, patients with FAOD present with acute crises of energy metabolism and severe energy deficiency. This can lead to potentially severe complications:
- Rhabdomyolysis (breakdown of muscle fibers into the blood)
- Low blood sugar (hypoglycemia)
- Decreased muscle tone (hypotonia) and weakness
- Heart muscle weakness (cardiomyopathy)
Several thousand people in the US have long-chain FAODs, which include six genetic conditions where a certain enzyme is missing or not working correctly. The most common four are:
- Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency
- Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
- Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
- Trifunctional Protein (TFP) Deficiency
Early diagnosis is possible, as newborns are now screened for FAOD in the US.
This confidential survey asks you questions about your/your child's experience with LC-FAOD, including family history, diagnosis, medical conditions or symptoms, treatments taken for LC-FAOD, and how LC-FAOD affects your/your child's daily life. The information gathered from this research study could be used to increase awareness of the disease and could encourage additional research and development.
If you are not sure about an answer, please give the best answer you can.
Please note: This survey will take about 45-60 minutes to complete. Please make sure you have enough time to think about and answer each question thoroughly. Following completion of the survey you will receive an Amazon gift card in the amount of $25.00.
**You must be 14 years or older to complete the patient survey, and 18 years or older to complete the parent/caregiver survey.
Click here to complete the survey.
There are currently no approved drugs or treatments specifically for LC-FAOD and standard of care treatment options for people with FAOD are limited. Some people are able to manage their health by avoiding fasting, following a low fat diet, using a medium-length, even-chain triglyceride (MCT) oil and/or taking prescribed carnitine.
UX007, a highly purified form of a synthetic seven carbon fatty acid triglyceride compound, is an investigational product that is being studied for the treatment of LC-FAOD. It is intended to provide people with LC-FAOD with medium-length, odd-chain fatty acids that are metabolized to bypass faulty pathways and provide an alternative energy source.
If you are a member of an FAOD patient organization and would like to be listed here, please contact us.
For more information on the Phase 2 clinical study, please visit the study page.