International Network for Fatty Acid Oxidation Research and Management showcased advancements, next-gen researchers

Global experts, practitioners, researchers and family members gathered this fall for the ninth meeting of the International Network for Fatty Acid Oxidation Research and Management. Held in Freiburg, Germany, preceding the Society for the Study of Inborn Errors of Metabolism (SSIEM), INFORM 2022 (https://informnetwork.org/), the premier meeting on fatty acid oxidation disorders worldwide, showcased leading research and provided updates on promising treatment modalities.

INFORM was created to facilitate collaboration among participating centers as well as presentation of leading research, personal collaboration and sharing of best practices for treatment of fatty acid oxidation defects. It’s grown to be even more.

“INFORM has been an important driver of increased visibility and focus on inborn errors of fatty acid oxidation, providing clinicians, researchers, and patients a joint home where all can meet and interact,” said Dr. Jerry Vockley, MD, PhD. INFORM’s co-chair and scientific organizer. “I am extraordinarily grateful to the many INFORM members and our industry sponsors, as well as our host institution the University of Freiburg for making this year’s meeting such a success.”

The session focused on therapeutics and new drug development. Speakers provided updates on the first approved drug, triheptanoin, and new drugs in preclinical development. DOJOLVI / triheptanoin had received FDA approval during the pandemic; now, there was more to report.

“Two years out, the most exciting finding is that in the expanded and longer term studies that have been in place since the approval of triheptanoin, the efficacy seems to be even better than in the original pivotal clinical trial,” Dr. Vockley said. “It has truly been life transforming for patients.”

Among the world class line-up of speakers, keynote plenary speaker Dr. Christine Vianey-Saban’s lecture, “A 40-year outlook on FAO: what have we learned, what can we expect?” capitalized on her pioneering role in the disorders and explored research and therapies that promise better treatments on the horizon. Dr. Vianey-Saban’s research has been focused on the enzymatic and molecular bases of mitochondrial fatty acid oxidation and riboflavin metabolism as well as on the development and the validation of new markers for the diagnosis of inborn errors of metabolism using tandem mass spectrometry.

INFORM recognized the work of next-generation researchers. Honorees included Johannes C.W. Odendaal (Best Overall Poster) for work exploring the digital MCADD chain acyl patient A putative role for preservation of free CoA in asymptomatic medium CoA dehydrogenase (MCADD) patients; Bianca Seminotti (Best Jr. Investigator Poster) for work on Restoring succinyllysine antigenic signal and improving O2 consumption of CPT II deficient cells treated with anaplerotic compounds; Ligia A. Kiyuna (Honorable Mention Poster), for Tissue-specific characterization of deoxy– glucose and palmitoyl carnitine uptake in medium-chain acyl-CoA dehydrogenase Deficient (MCAD-/-) mouse under fasting and cold challenge; and Marit Schwantje (Honorable Mention Poster), on the Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands. View their work at https://informnetwork.org/professionals/#2022winners.

The event also showcased the leadership role of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh and its designation as a destination for the development and pursuit of clinical trials for novel therapeutics for this disorder, said Dr. Vockley, the Cleveland Family Endowed Chair in Pediatric Research and Professor of Human Genetics at University of Pittsburgh Children’s Hospital of Pittsburgh, Chief of Genetic and Genomic Medicine, and Director of the Center for Rare Disease Therapy.

INFORM encourages interested family and patient members to participate in the meetings. Generous sponsorship support underwrote attendance by several families in the entire event and in a separate family meeting with several FAOD MDs and researchers in cooperation with MitoAction. The event is funded by educational grants from industry sponsors and individual donors, including Acer Therapeutics; American GeneTechnologies; Arcturus Therapeutics; CoA Therapeutics; Homology Medicines; Kriya Therapeutics; Moderna; Nestle Health Science; PerkinElmer Genetics; Reneo; Solace Nutrition; Stealth; Ultragenyx; and Vitaflo. All funds were collected and managed by the Children’s Hospital of Pittsburgh (CHP) Foundation. In all, 115 participants attended from 21 countries.

Next year’s 10th anniversary event is scheduled for Jerusalem, and will be followed by events in Porto, Portugal, in 2024, and Japan in 2025.

“The 10-year anniversary of INFORM is an exciting milestone for our group,” Dr. Vockley said. “We are looking forward to being able to join our SSIEM and other colleagues in Jerusalem, which has never hosted either meeting previously.”

INFORM, the International Network for Fatty Acid Oxidation Research and Management, is committed to discovering new FAOD treatments and cures to improve the lives of patients and their families. Learn more at https://informnetwork.org/