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Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
De Giorgis, Valentina; Bhatia, Kailash P; Boespflug-Tanguy, Odile; Gras, Domitille; Marina, Adela Della; Desurkar, Archana; Toledo, Manuel; Miller, Ian; Rotstein, Michael; Schneider, Susanne A; Tarquinio, Daniel C; Weber, Yvonne; Brandabur, Melanie; Mayhew, Jill; Koutsoukos, Tony; De Vivo, Darryl C.
Afiliación
  • De Giorgis V; Department of Child Neurology and Psychiatry, Mondino Foundation, Pavia, Italy.
  • Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Boespflug-Tanguy O; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France.
  • Gras D; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France.
  • Marina AD; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Desurkar A; Neurology Department, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.
  • Toledo M; Epilepsy Unit, Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain.
  • Miller I; Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children's Hospital, Miami, Florida, USA.
  • Rotstein M; Pediatric Movement Disorders Service, The Pediatric Neurology Unite and Child Development Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Schneider SA; Department of Neurology, Ludwig-Maximilians-University of München, Munich, Germany.
  • Tarquinio DC; Center for Rare Neurological Diseases, Norcross, Georgia, USA.
  • Weber Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Brandabur M; Section of Epileptology, Department of Neurology, University Hospital RWTH Aachen, Aachen, Germany.
  • Mayhew J; Ultragenyx Pharmaceutical Inc., Novato, California, USA.
  • Koutsoukos T; Ultragenyx Pharmaceutical Inc., Novato, California, USA.
  • De Vivo DC; Ultragenyx Pharmaceutical Inc., Novato, California, USA.
Mov Disord ; 39(8): 1386-1396, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38725190
ABSTRACT

BACKGROUND:

Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets.

OBJECTIVES:

The objective was to evaluate the effectiveness and safety of triheptanoin in reducing the frequency of disabling movement disorders in patients with Glut1DS not receiving a ketogenic diet.

METHODS:

UX007G-CL301 was a randomized, double-blind, placebo-controlled, phase 3 crossover study. After a 6-week run-in, eligible patients were randomized 11 to the first sequence (triheptanoin/placebo or placebo/triheptanoin) titration plus maintenance, followed by washout and the opposite sequence titration plus maintenance. The placebo (safflower oil) matched the appearance, taste, and smell of triheptanoin. Open-label triheptanoin was administered in the extension. The frequency of disabling paroxysmal movement disorder events per 4 weeks (recorded by diary during maintenance; primary endpoint) was assessed by Wilcoxon rank-sum test.

RESULTS:

Forty-three patients (children, n = 16; adults, n = 27) were randomized and treated. There was no difference between triheptanoin and placebo in the mean (interquartile range) number of disabling paroxysmal movement disorder events (14.3 [4.7-38.3] vs. 11.8; [3.2-28.7]; Hodges-Lehmann estimated median difference 1.46; 95% confidence interval, -1.12 to 4.36; P = 0.2684). Treatment-emergent adverse events were mild/moderate in severity and included diarrhea, vomiting, upper abdominal pain, headache, and nausea. Two patients discontinued the study because of non-serious adverse events that were predominantly gastrointestinal. The study was closed early during the open-label extension because of lack of effectiveness. Seven patients continued to receive triheptanoin compassionately.

CONCLUSION:

There were no significant differences between the triheptanoin and placebo groups in the frequency of disabling movement disorder events during the double-blind maintenance period. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Estudios Cruzados Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Estudios Cruzados Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos