EUCTR2014-001637-88-DK进行中（未招募）1 期
A phase 2a study to explore treatment with Sodium Valproate in adults with McArdle Disease (Glycogen Storage Disorder Type V, GSDV) - Valproate treatment in McArdle disease
John Vissing0 个研究点目标入组 15 人开始时间: 2014年6月24日最近更新:
适应症
相关药物
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 15
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Interventional clinical trial of medicinal product
入排标准
- 性别
- All
入选标准
- •1. Subjects diagnosed with McArdle's disease. Diagnosis will have been confirmed by either muscle biopsy showing subsarcolemmal blebs of glycogen with complete absence of skeletal muscle glycogen phosphorylase and/or DNA studies showing pathogenic homozygous or compound heterozygous mutations or deletions in the muscle phophorylase gene.
- •2. Subjects over 18 years of age
- •3. Normal serum carnitine and acylcarnitine blood profiles at screening visit.
- •Are the trial subjects under 18? no
- •Number of subjects for this age range:
- •F.1.2 Adults (18-64 years) yes
- •F.1.2.1 Number of subjects for this age range 7
- •F.1.3 Elderly (>=65 years) no
- •F.1.3.1 Number of subjects for this age range 0
排除标准
- •1.Children under the age of 18 years
- •2.Pregnant women
- •3.Known Diabetes mellitus
- •4.Inflammatory disorders especially systemic lupus erythematosis.
- •5.A previous history of sensitivity/allergy to sodium valproate.
- •6.Patients treated with sodium valproate for epilepsy or a psychiatric disorder within the last 12 months prior to recruitment.
- •7.Patients with pre-existing liver disease or a family history of severe liver disease affecting a first degree relative. Patients with GSDV may have raised serum transaminases that originate from muscle but which may cause abnormal liver function tests measured in serum, this will not be a reason for exclusion. Patients with mild elevation in bilirubin caused by clinically insignificant Gilbert’s syndrome (as demonstrated by a high ratio of unconjugated/conjugated billirubin) will also be included in the study.
- •8.Patients prescribed other anti-convulsant medication or any other medication known to interact with sodium valproate.
- •9.Patients who are sensitive to local anaesthetics that would prevent muscle biopsy.
- •10.Subjects with any co-morbid illness or disability which would prevent an exercise assessment such as severe unstable/ untreated ischaemic heart disease, lower limb disability such as severe muscle weakness with muscle strength assessed as worse than MRC scale 3 in any pelvic girdle muscle.
- •11.Inability to exercise due to a lower limb fracture would be an exclusion criterion until there is complete recovery of the injury.
- •12.Patients known to have porphyria or an affected first degree relative affected with porphyria will be excluded from the study.
- •13.Patients known to have mitochondrial disease or where there is a first degree relative with mitochondrial disease.
- •14.Patients with a history of abnormal acyl carnitine profile or low serum carnitine level
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