Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.

• 影响指数: 2.272
• 发表时间: Feb 2021
• 来源期刊: Brain Dev
• DOI: 10.1016/j.braindev.2020.07.019
• PMID: 32798077
• 文章类型: Clinical Study
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Shiraishi H,Yamada K,Egawa K,Ishige M,Ochi F,Watanabe A,Kawakami S,Kuzume K,Watanabe K,Sameshima K,Nakamagoe K,Tamaoka A,Asahina N,Yokoshiki S,Kobayashi K,Miyakoshi T,Oba K,Isoe T,Hayashi H,Yamaguchi S,Sato N

关键词: Bezafibrate; Myopathic attack; Rhabdomyolysis; VLCADD; Very long-chain acyl-CoA dehydrogenase deficiency

Mesh: Acyl-CoA Dehydrogenase, Long-Chain / deficiency genetics; Adult; Bezafibrate / metabolism therapeutic use; Child; Congenital Bone Marrow Failure Syndromes / drug therapy physiopathology; Female; Humans; Lipid Metabolism, Inborn Errors / drug therapy physiopathology; Male; Mitochondrial Diseases / drug therapy physiopathology; Muscular Diseases / drug therapy physiopathology

Abstract

BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a mitochondrial fatty acid oxidation disorder that causes episodic attacks, such as general fatigue, hypotonia, myalgia, and rhabdomyolysis accompanied by lack of energy. As yet, there are no preventative drugs for these VLCADD-associated metabolic attacks.
METHODS: We conducted an open-label, non-randomized, multi-center study into the effects of bezafibrate on five patients with VLCADD. Bezafibrate was administered for 4 years, and we analyzed the number of myopathic attacks requiring hospitalization and treatment infusions.
RESULTS: The number of myopathic attacks requiring infusions of 24 h or longer significantly decreased during the study period. The patients\' ability to conduct everyday activities was also improved by the treatment.
CONCLUSIONS: Our findings show the potential long-term efficacy of bezafibrate in preventing myopathic attacks for patients with VLCADD.