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Title: A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Austin Authors: Striano, Pasquale;Auvin, Stéphane;Collins, Abigail;Horvath, Rita;Scheffer, Ingrid E ;Tzadok, Michal;Miller, Ian;Kay Koenig, Mary;Lacy, Adrian;Davis, Ronald;Garcia-Cazorla, Angela;Saneto, Russell P;Brandabur, Melanie;Blair, Susan;Koutsoukos, Tony;De Vivo, Darryl
Affiliation: Austin Health
The Florey Institute of Neuroscience and Mental Health
University of Melbourne, Parkville, Victoria, Australia
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
Pediatric Neurology Units, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Affiliated with the Sackler Faculty of Medicine, Tel Aviv University, Ramat Gan, Israel
Miami Children's Research Institute, Miami, Florida, USA
University of Texas Health Science Center at Houston, Houston, Texas, USA
Cook Children's Medical Center, Fort Worth, Texas, USA
Neurology and Epilepsy Research Center, Pediatric Neurology, Orlando, Florida, USA
Sant Joan de Déu Hospital, Barcelona, Spain
Department of Neurology, Division of Pediatric Neurology, University of Washington/Seattle Children's Hospital, Seattle, Washington, USA
Ultragenyx Pharmaceutical Inc, Novato, California, USA
Columbia University Irving Medical Center, New York, New York, USA
Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy
Robert Debré University Hospital and University of Paris, Paris, France
University Institute of France, Paris, France
G. Gaslini Institute, Scientific Institute for Research and Health Care, Genoa, Italy
Children's Hospital Colorado, Aurora, Colorado, USA
Murdoch Children's Research Institute, Parkville, VIC, Australia
Royal Children's Hospital, Melbourne, VIC, Australia
Issue Date: Jul-2022
Date: 2022-05-21
Publication information: Epilepsia 2022; 63(7): 1748-1760
Abstract: This study was undertaken to evaluate efficacy and long-term safety of triheptanoin in patients >1 year old, not on a ketogenic diet, with drug-resistant seizures associated with glucose transporter 1 deficiency syndrome (Glut1DS). UX007G-CL201 was a randomized, double-blind, placebo-controlled trial. Following a 6-week baseline period, eligible patients were randomized 3:1 to triheptanoin or placebo. Dosing was titrated to 35% of total daily calories over 2 weeks. After an 8-week placebo-controlled period, all patients received open-label triheptanoin through Week 52. The study included 36 patients (15 children, 13 adolescents, eight adults). A median 12.6% reduction in overall seizure frequency was observed in the triheptanoin arm relative to baseline, and a 13.5% difference was observed relative to placebo (p = .58). In patients with absence seizures only (n = 9), a median 62.2% reduction in seizure frequency was observed in the triheptanoin arm relative to baseline. Only one patient with absence seizures only was present in the control group, preventing comparison. No statistically significant differences in seizure frequency were observed. Common treatment-emergent adverse events included diarrhea, vomiting, abdominal pain, and nausea, mostly mild or moderate in severity. No serious adverse events were considered to be treatment related. One patient discontinued due to status epilepticus. Triheptanoin did not significantly reduce seizure frequency in patients with Glut1DS not on the ketogenic diet. Treatment was associated with mild to moderate gastrointestinal treatment-related events; most resolved following dose reduction or interruption and/or medication for treatment. Triheptanoin was not associated with any long-term safety concerns when administered at dose levels up to 35% of total daily caloric intake for up to 1 year.
DOI: 10.1111/epi.17263
ORCID: 0000-0002-6065-1476
Journal: Epilepsia
PubMed URL: 35441706
PubMed URL:
Type: Journal Article
Subjects: diet treatment
drug resistance
glucose transporter 1 deficiency syndrome
Appears in Collections:Journal articles

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