Oral Ketone Body Supplementation in Patients With McArdle Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 8
- 试验地点
- 1
- 主要终点
- Heart rate
研究概览
简要总结
McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle.
Investigators hypothesize that ketones can be an alternative fuel substrate for skeletal muscle when muscle glycogenolysis is blocked as in McArdle disease.
In this study investigators will investigate the immediate effects of an oral supplementation of exogenous ketone bodies (poly-hydroxybuturate) on exercise capacity in patients with metabolic myopathies, compared with a placebo drink.
详细描述
McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in muscle, leading to exercise intolerance, exercise-induced muscle pain, contractures and rhabdomyolysis, which may cause renal failure. Currently, there are no satisfactory treatment options for McArdle disease.
A key element of alleviating symptoms in McArdle disease is to provide alternative fuels for energy metabolism. Investigators hypothesize that ketones can be an alternative fuel substrate for skeletal muscle when muscle glycogenolysis is blocked as in McArdle disease.
Aim: To investigate the immediate effects of an oral supplementation of exogenous ketone bodies (poly-hydroxybuturate) on exercise capacity in patients with metabolic myopathies.
Supplement description: food supplement containing β-hydroxybuturate esters
Methods:
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Basic Science
- 盲法
- Double (Participant, Investigator)
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Genetically confirmed McArdle disease or healthy control.
- •Patient is willing and able to provide written informed consent prior to participation.
- •Patient is ambulatory.
排除标准
- •Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
- •Pregnancy or breastfeeding
- •Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments.
研究组 & 干预措施
Intervention sequence 1
Ketone drink first - Placebo drink secondly
干预措施: β-hydroxybuturate esters (Dietary Supplement)
Intervention sequence 1
Ketone drink first - Placebo drink secondly
干预措施: Placebo drink (Dietary Supplement)
Intervention sequence 2
Placebo drink first - Ketone drink secondly
干预措施: β-hydroxybuturate esters (Dietary Supplement)
Intervention sequence 2
Placebo drink first - Ketone drink secondly
干预措施: Placebo drink (Dietary Supplement)
结局指标
主要结局
Heart rate
时间窗: 30 minuts x 2
Change between visit 1 and 2 in mean heart rate during constant load cycling exercise (40 minute submaximal cycle test)
次要结局
- Perceived exertion(30 minuts x 2)
- Ketone metabolism(150 minuts x 2)
- Carbohydrate metabolism(150 minuts x 2)
- Blood ketone(150 minuts x 2)
- Fat metabolism(150 minuts x 2)
- Indirect calorimetry(30 minuts x 2)
- Metabolites(30 minuts x 2)
- Insulin(30 minuts x 2)
研究者
Nicoline Løkken
Principle investigator, MD, research fellow
Rigshospitalet, Denmark