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, chief of medical genetics at the UPMC Children’s Hospital of Pittsburgh in Pennsylvania.
“It took me a long time to come up with that acronym,” Dr. Vockley joked in a phone interview from Pittsburgh. “We started with a handful of academic centers in the United States and as we moved away from being [a National Institutes of Health] grant to an independent entity, we took the international part of the name to heart and started incorporating colleagues and centers from around the world.”
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Some 20 scientists and researchers in Pittsburgh alone belong to INFORM, with another 15 to 20 centers scattered across the United States, Europe, South America, Asia and Australia.
Even though FAODs are relatively rare, Dr. Vockley said, affecting only 1 in 9300 US births, this group of diseases is included in US newborn screening panels — while more common rare diseases such as Duchenne muscular dystrophy and spinal muscular atrophy generally are not.
“This has a lot to do with family advocacy,” Dr. Vockley explained. “A major effort was made by the American College of Genetics on behalf of our Health and Human Services Department to identify diseases that qualified for newborn screening. And that qualification was not just based on the idea that we could find them, but that we could treat them.”
Two such disorders — isovaleric acidemia and medium-chain acyl-COA dehydrogenase deficiency (MCAD) — fall into that category, in that if diagnosed early enough, babies with either of those conditions would remain perfectly healthy as long as they didn’t become hypoglycemic. The other disorders, including long chain fatty acid oxidation disorder (LCFAOD), are more problematic, he said.
Between 2000 and 3500 Americans are believed to have LCFAOD. And until the US Food and Drug Administration’s approval on June 30, 2020, of triheptanoin (Dojolvi®), there were no medications on the market for this disease. Patients had to be very careful not to go without food for more than a few hours, and were urged to avoid stress or heavy exercise.
Dr. Vockley said that changed once the FDA green-lighted triheptanoin, which was developed by Ultragenyx of Novato, California.
“Emil Kakkis, who is the CEO of Ultragenyx, partnered with me a dozen years or so ago, in moving triheptanoin forward. I was working on it in my laboratory but didn’t have the resources to do a full-fledged clinical trial to get it FDA-approved,” Dr. Vockley explained. “And Dr. Kakkis had just started his company and I spoke with him, and he was interested enough in taking it on.”
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Since Dojolvi’s approval, he said, the outlook for LCFAOD patients has improved tremendously.
“The drug is not a panacea and doesn’t fix everything, but what it does is quite clinically important,” Dr. Vockley said, noting it is “extremely effective” at preventing the hypoglycemia that occurs with these disorders.
“So you can imagine for a second, you’ve taken your 5-day-old baby home and we call you and we say your child has one of these disorders. It’s life-threatening. He or she can’t sleep through the night. You’ve got to keep waking them up every 3 hours so that they don’t drop their blood sugar and die. Prior to triheptanoin, that was the treatment,” he said.
“Or your 2-year-old gets an illness and doesn’t want to eat, but you can’t let that 2-year-old not eat because he or she could get low blood sugar and die. So you have to come to the hospital and get an IV. Triheptanoin eliminates that. Families can sleep through the night now, and not worry about their baby dying. It’s remarkable.”
In fact, the keynote speaker for the October event will be Dr. Kakkis, whose talk is on “rare diseases and the development space.” Other US-based experts on the agenda will be Scott Summers, PhD, on ceramide; Melanie Gillingham, PhD, on fatty acid oxidation and insulin sensitivity; Claudio J. Villanueva, PhD, on global analysis of plasma lipids.
Europeans presenting at the conference will include Dutch researcher Barbara Bakker, PhD, on modeling fatty acid oxidation defects, and two German speakers: Sarah Grünert, MD, on “Spectrum of Peripheral Neuropathy in LCHAD/TFP Deficiency,” and Sara Tucci on “Disease-Specific Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.”
Given that INFORM’s conference isn’t taking place in person precisely due to rising COVID infections spurred by the highly contagious Delta variant, Dr. Vockley is urging anyone with fatty acid oxidation disorders who hasn’t been vaccinated to do so—the sooner, the better.
“The highest risk time in these disorders is when you’re ill and minor viruses can be life-threatening,” he said, explaining that the protective properties of any of the major coronavirus vaccines now being administered far outweigh any theoretical risks.
“COVID is more than a mild virus. It’s a very severe infection, and any side effects from the vaccine are predictable in time, and so you know when you’re going to get them, you can treat yourself and it’ll only last a day,” Dr. Vockley added. “We definitely recommend doing the vaccine to protect yourself from the disease.”
