DWQA QuestionsCategory: Questions20-Month-old Girl with LCHAD
Jonathan Xerri asked 5 years ago
Hi, I am a dad to a 20-month-old girl with LCHAD from Malta. She suffered a major metabolic crisis at 8 months old where we were flown to Great Ormond Street hospital and she was diagnosed with this disease. Today she is doing very well with her treatment. However, the future of these individuals is still unknown. Re triheptanoin there is news within the LCHAD community that it will soon be FDA approved is this so ? Furthermore are there any developments in enzyme replacement therapy or gene therapy with regards to LCHAD and lastly what is the chance of finding a cure during our lifetime? Thank you for your time and attention and look forward to your reply.

1 Answers
INFORM Physician answered 5 years ago
It is probably too optimistic to say that we will have a cure for LCHAD in the near future. However, we are definitely making strides in better understanding the disease and developing new treatments. As you note, triheptanoin is currently in clinical trials through Ultragenyx and the company is moving as quickly as possible to submission for approval by the FDA. Unfortunately, it’s a bit of a long process and it’s hard to know how much longer it will take. You can certainly follow progress of the study on this site. Other treatments for LCHAD deficiency are also in development. A new trial for an experimental drug for all long chain FAODs is soon to start. The drug (which doesn’t have a name yet) is a category of chemical called a PPAR delta agonist and helps increase the amount of FAO proteins made by a cell. In experiments in my lab, treating many different FAO deficiency cell lines with this chemical increases their ability to perform fatty acid oxidation. Several other compounds are also being examined in cells and could come to clinical trials in the next 2-3 years. Overall, I think the outlook for patients with long chain FAODs is much brighter than its ever been and we are likely to see big changes in the coming years. Hope this helps. Dr. Vockely