This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement. It will also allow triheptanoin supplementation in patients with qualifying disorders if they are failing conventional therapy.

开始日期-

申办/合作机构

University of Pittsburgh

[+1]

NCT02214160 / Completed临床2期

An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies

The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical events associated with LC-FAOD.

开始日期2014-12-09

申办/合作机构

Ultragenyx Pharmaceutical, Inc.

100 项与肉毒碱棕榈酰转移酶缺乏症相关的临床结果

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100 项与肉毒碱棕榈酰转移酶缺乏症相关的转化医学

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0 项与肉毒碱棕榈酰转移酶缺乏症相关的专利（医药）

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项与肉毒碱棕榈酰转移酶缺乏症相关的文献（医药）

2019-03-01·European Journal of Pediatrics2区 · 医学

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

2区 · 医学

Article

作者: Ramos, Ruben ; Gaspar, Ana ; Tavares de Almeida, Isabel ; Florindo, Cristina ; Ventura, Fátima V ; Janeiro, Patrícia ; Jotta, Rita ; Vilarinho, Laura

Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death. Expanded newborn screening (ENS) for these disorders, hopefully, contribute to prevent potentially acute life-threatening events. In order to characterize acute decompensations observed in FAO-deficient cases identified by ENS, a retrospective analysis was performed, covering a period of 9 years. Demographic data, number/type of acute decompensations, treatment, and follow-up were considered. Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. Nineteen patients had acute decompensations (1 CPT I, 1 CPT II, 3 MADD, 14 MCADD). Six patients developed symptoms previously to ENS diagnosis. Severe clinical manifestations included multiple organ failure, liver failure, heart failure, and sudden death. Long-chain FAO disorders had the highest number of decompensations per patient.Conclusion: Despite earlier diagnosis by ENS, sudden deaths were not avoided and acute decompensations with severe clinical manifestations still occur as well. What is Known: • Severe ventricular arrhythmias are suspected to cause unexpected death in FAO disorders. • Neonatal screening intends to reduce the incidence of severe metabolic crisis and death. What is New: • Acute severe decompensations occurred in FAO disorders diagnosed through neonatal screening. • Sudden deaths were not avoided by starting treatment precociously.

2018-06-01·European Journal of Obstetrics & Gynecology and Reproductive Biology

An unusual case of placenta increta in a Carnitine palmitoyltransferase deficiency carrier

Letter

作者: Levin, Gabriel ; Matan, Liat ; Rottenstreich, Amihai ; Zigron, Roy ; Haj-Yahya, Rani

2013-11-01·Behavioural Brain Research3区 · 心理学

Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity

3区 · 心理学

Article

作者: Patricia Carrasco ; Juan Pié ; Pau Mezquita ; Beatriz Puisac ; Helena Muley ; Núria Casals ; Jordi Jacas ; Mara Dierssen ; Ignasi Sahún ; Sara Ramírez

Carnitine palmitoyltransferase 1c (CPT1C), a brain-specific protein localized in the endoplasmic reticulum of neurons, is expressed in almost all brain regions, but its only known functions to date are involved in the hypothalamic control of energy homeostasis and in hippocampus-dependent spatial learning. To identify other physiological and behavioral functions of this protein, we performed a battery of neurological tests on Cpt1c-deficient mice. The animals showed intact autonomic and sensory systems, but some motor disturbances were observed. A more detailed study of motor function revealed impaired coordination and gait, severe muscle weakness, and reduced daily locomotor activity. Analysis of motor function in these mice at ages of 6-24 weeks showed that motor disorders were already present in young animals and that impairment increased progressively with age. Analysis of CPT1C expression in different motor brain areas during development revealed that CPT1C levels were low from birth to postnatal day 10 and then rapidly increased peaking at postnatal day 21, which suggests that CPT1C plays a relevant role in motor function during and after weaning. As CPT1C is known to regulate ceramide levels, we measured these biolipids in different motor areas in adult mice. Cerebellar, striatum, and motor cortex extracts from Cpt1c knockout mice showed reduced levels of ceramide and its derivative sphingosine when compared to wild-type animals. Our results indicate that altered ceramide metabolism in motor brain areas induced by Cpt1c deficiency causes progressive motor dysfunction from a young age.