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Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Krosschell, Kristin J; Kissel, John T; Townsend, Elise L; Simeone, Sarah D; Zhang, Ren Zhe; Reyna, Sandra P; Crawford, Thomas O; Schroth, Mary K; Acsadi, Gyula; Kishnani, Priya S; Von Kleist-Retzow, Jürgen-Christoph; Hero, Barbara; D'Anjou, Guy; Smith, Edward C; Elsheikh, Bakri; Simard, Louise R; Prior, Thomas W; Scott, Charles B; Lasalle, Bernard; Sakonju, Ai; Wirth, Brunhilde; Swoboda, Kathryn J.
Afiliação
  • Krosschell KJ; Department of Physical Therapy and Human Movement Sciences, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
  • Kissel JT; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
  • Townsend EL; Department of Physical Therapy, Institute of Health Professions, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Simeone SD; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, 185 Cambridge Street, Simches 5-240, Boston, Massachusetts, 02114, USA.
  • Zhang RZ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, 185 Cambridge Street, Simches 5-240, Boston, Massachusetts, 02114, USA.
  • Reyna SP; Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
  • Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Schroth MK; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.
  • Acsadi G; Connecticut Children's Medical Center, Hartford, Connecticut, USA.
  • Kishnani PS; Department of Pediatrics, Duke University, Durham, North Carolina, USA.
  • Von Kleist-Retzow JC; Department of Pediatrics, Hospital of the University of Cologne, Cologne, Germany.
  • Hero B; Department of Pediatrics, Hospital of the University of Cologne, Cologne, Germany.
  • D'Anjou G; Department of Pediatrics, Saint-Justine Hospital, Montreal, Quebec, Canada.
  • Smith EC; Department of Pediatrics, Duke University, Durham, North Carolina, USA.
  • Elsheikh B; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
  • Simard LR; Biochemistry and Medical Genetics, University of Manitoba, Winnepeg, Manitoba, Canada.
  • Prior TW; Department of Molecular Pathology, The Ohio State University, Columbus, Ohio, USA.
  • Scott CB; CBS Squared, Inc, Fort Washington, Pennsylvania, USA.
  • Lasalle B; Department of Bioinformatics, University of Utah, Salt Lake City, Utah, USA.
  • Sakonju A; Department of Neurology, State University of New York, Syracuse, New York.
  • Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne.
  • Swoboda KJ; Institute of Genetics, University of Cologne, Cologne, Germany.
Muscle Nerve ; 57(2): 193-199, 2018 02.
Article em En | MEDLINE | ID: mdl-28833236
ABSTRACT

INTRODUCTION:

The aim of this study was to determine the safety and therapeutic potential of L-carnitine and valproic acid (VPA) in infants with spinal muscular atrophy (SMA).

METHODS:

Our investigation was an open-label phase 2 multicenter trial of L-carnitine and VPA in infants with SMA type I with retrospective comparison to an untreated, matched cohort. Primary outcomes were safety and adverse events; secondary outcomes were survival, time to death/>16 hours/day of ventilator support; motor outcomes; and maximum ulnar compound motor action potential amplitude.

RESULTS:

A total of 245 AEs were observed in 35 of the 37 treated subjects (95%). Respiratory events accounted for 49% of all adverse events, resulting in 14 deaths. Survival was not significantly different between treated and untreated cohorts.

DISCUSSION:

This trial provides evidence that, in infants with SMA type I, L-carnitine/VPA is ineffective at altering survival. The substantial proportion of infants reaching end-points within 6 months of enrollment underscores the urgent need for pre-symptomatic treatment in SMA type I. Muscle Nerve 57 193-199, 2018.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo Vitamínico B / Carnitina / Atrofias Musculares Espinais da Infância / Ácido Valproico / GABAérgicos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Muscle Nerve Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo Vitamínico B / Carnitina / Atrofias Musculares Espinais da Infância / Ácido Valproico / GABAérgicos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Muscle Nerve Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos