FDA Approves Triheptanoin for Long-Chain Fatty Acid Oxidation Disorders

The US Food and Drug Administration (FDA) today approved triheptanoin (Dojolvi) as a source of calories and fatty acids for the treatment of pediatric and adult patients with molecularly confirmed long-chain fatty acid oxidation disorders (LC-FAOD).

Triheptanoin is a highly purified, synthetic, seven-carbon fatty triglyceride designed to provide medium-chain, odd-carbon fatty acids as an energy source and metabolite replacement for those with LC-FAOD, a group of rare, lifelong, and life-threatening genetic disorders. The disorders make the body unable to convert long-chain fatty acids into energy. LC-FAOD affects an estimated 2000-3500 children and adults in the US.

“With today’s FDA approval, patients living with this serious, unpredictable, and often catastrophic disease now have an approved therapy,” Camille Bedrosian, MD, chief medical officer at Ultragenyx, said in a statement. “Many patients with long-chain fatty acid oxidation disorders have difficult lives with frequent hospitalizations and major medical events despite the best current care. Now, these patients have an approved treatment as an option to help manage their disease.”

The group of autosomal recessive genetic disorders is characterized by metabolic deficiencies making it harder for the body to make energy. The inability to make energy from fat can lead to the depletion of glucose in the body and serious complications including hospitalizations and early death.

Additional treatment options for LC-FAOD include avoiding fasting, low-fat/high-carbohydrate diets, carnitine, and even-carbon medium-chain triglyceride oil.

Patients who used the therapy reported feeding tube dysfunction, therefore it should not be administered in tubes manufactured of polyvinyl chloride. The treatment should also not be used in patients with pancreatic insufficiency. Common gastrointestinal adverse reactions were reported during 2 studies of the therapy, including abdominal pain (60%), diarrhea (44%), vomiting (44%), and nausea (14%).

“(Triheptanoin) brings hope as a new tool now available to clinicians taking care of these patients,” Jerry Vockley, MD, PhD, chief of medical genetics at Children’s Hospital of Pittsburgh of UPMC, said in a statement. “Rare disease research, especially development of new therapies, is an arduous and time-consuming process, and today’s announcement represents the culmination of nearly 20 years of work on the part of numerous researchers, clinicians, and patients.”

Ultragenyx Pharmaceutical, a company focused on the development and commercialization of novel products for rare and ultra-rare diseases, expects triheptanoin to be available to patients in the next 30 days.