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Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
  1. Elodie Hainque1,2,
  2. Domitille Gras3,
  3. Aurélie Meneret1,2,
  4. Mariana Atencio2,
  5. Marie-Pierre Luton2,
  6. Magali Barbier2,
  7. Mohamed Doulazmi4,
  8. Florence Habarou5,
  9. Chris Ottolenghi5,
  10. Emmanuel Roze1,2,6,
  11. Fanny Mochel2,6,7
  1. 1 Department of Neurology, Hopitaux Universitaires Pitie Salpetriere-Charles Foix, Paris, France
  2. 2 UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moëlle épinière, Paris, France
  3. 3 Department of Child Neurology, Hopital Universitaire Robert-Debre, Paris, France
  4. 4 Sorbonne Universités, UPMC Paris 06, CNRS UMR8256, Institut de Biologie Paris Seine, Adaptation Biologique et vieillissement, Paris, France
  5. 5 Department of Biochemistry, Hopital universitaire Necker-Enfants malades, Paris, France
  6. 6 Sorbonne Université, Groupe de Recherche Clinique Neurométabolique, Paris, France
  7. 7 Department of Genetics, Hopitaux Universitaires Pitie Salpetriere-Charles Foix, Paris, France
  1. Correspondence to Dr Fanny Mochel, Department of Genetics, Hopitaux Universitaires Pitie Salpetriere-Charles Foix, Paris 75013, France; fanny.mochel{at}

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Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by heterozygous mutations in the SLC2A1 gene. Glucose transport is impaired across the blood–brain barrier and into astrocytes. This eventually results in cerebral energy deficiency.1 Typically, GLUT1-DS is associated with developmental delay, permanent motor disorders and paroxysmal manifestations including epileptic and non-epileptic paroxysmal episodes.1 2 The phenotypic spectrum is however much wider: exercise-induced paroxysmal dyskinesia may sometimes be the main or sole manifestation of the disease.3 4

Ketogenic diet is the standard of care in GLUT1-DS,1 5 providing ketone bodies as an alternate source of energy to the brain. Other alternative treatments are needed as many patients have difficulties following the heavy constraints of this diet. Triheptanoin (UX007; Ultragenyx Pharmaceuticals, Novato, USA) is a medium odd-chain triglyceride containing three 7-carbon fatty acids with anaplerotic properties.6–8 Unlike even-chain fatty acids that can only generate acetyl-CoA, triheptanoin provides indeed both acetyl-CoA and propionyl-CoA, two key carbon sources for the Krebs cycle.9 10

We recently showed that triheptanoin dramatically reduced by 90% the number of non-epileptic paroxysmal manifestations over 2 months in GLUT1-DS and improved patient’s brain energy profile.9 Here, we wished to evaluate the long-term clinical efficacy of triheptanoin in children and adults with GLUT1-DS.


We extended our study protocol (NCT02014883) based on the striking short-term response with triheptanoin.9 All participants and/or their legal guardians signed a new informed consent. Among the six patients previously reported who completed the initial …

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