Treatment regimen(s)

Patients were provided with triheptanoin as a pharmaceutical-grade investigational product supplied by Ultragenyx Pharmaceutical, Inc. (Novato, CA USA), supplied as a clear and colorless to light yellow oil intended for oral administration. It is a purified, synthetic triglyceride compound manufactured by chemical synthesis from glycerol and heptanoic acid, and manufactured in accordance with Current Good Manufacturing Practice regulations, applicable International Conference on Harmonisation guidelines, and regional regulations. Historically, patients 8 and 10 were treated initially with a food-grade oil (Sasol, Germany) at the time of presentation, but were switched to pharmaceutical grade investigational product when it became available.

The dose and regimen with triheptanoin were defined based on information derived from over 13 years of clinical experience in LC-FAOD with food-grade triheptanoin [17]. These data showed an age-dependent dose related to the relatively higher energy requirements for young children versus older children and adults. The target dose was 25–35% of total calories, as tolerated, which is equivalent to approximately 2–4 g/kg in infants and young children, decreasing to 1–2 g/kg for older children and adolescents, and 1 g/kg for adults. The dose level in the cases presented ranged from 1 to 4 g/kg/day based on patient age (correlating to inherent energy requirement) and tolerability.