DINAMITE Study: An Explorative Study of the Effect of Dietary Intervention on Body Function and Quality of Life in Adults With Mitochondrial Disease Caused by the m.3243A>G Mutation.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
- 主要终点
- Nutritional Status
研究概览
简要总结
The m.3243A>G mutation is the most frequent cause of mitochondrial disease in adults, for which currently no therapy is available and treatment is solely supportive. Since both malnutrition and obesity are frequently seen in these patients, an adequate nutritional intervention to improve body composition and function might improve the quality of life of these patients.
Hypothesis / research questions Hypothesis part 1: Patients with mitochondrial disorders caused by the m.3243 A>G mutation have an increased risk for malnutrition.
Hypothesis part 2 : Intervention study: Dietary intervention in adults with a mitochondrial disorder caused by the m.3243 A>G mutation has a positive effect on nutritional status, activity, hand grip strength, body composition, food intake, fatigue and quality of life.
详细描述
Background
The Nijmegen Centre for Metabolic Disease (NCMD) harbors a unique research center with much experience in the characterization of the group of patients with the m3243A>G mutation.
For a mitochondrial disease no therapy is available. Treatment is supportive, and aims at improving the quality of life. Clinical findings in patients with mitochondrial diseases may both comprise malnutrition and obesity. While a nutritional intervention might constitute a symptomatic treatment for these patients, there are very few data in adults to guide such a strategy.
Malnutrition is defined as a state of nutrition in which a deficiency, excess (or imbalance) of energy, protein, and other nutrients causes measurable adverse effects on body composition and function, and clinical outcome. In patients with mitochondrial disease there is by definition malnutrition on a cellular level due to disturbed metabolism with energy deficit. A logical next step is to study the effect of this energy shortage on complaints in the adult population by describing characteristics of this patient group in relation to the nutritional status. In the same vein, a controlled dietary intervention might result in an evidence based dietary therapy.
Frequent symptoms of patients with OXPHOS disorders include e gastrointestinal problems, fatigue and dysphagia. We suspect that these symptoms increase the risk for malnutrition. Research in patients with neuromuscular disorders have demonstrated that none of the patients had an adequate nutritional state, with a a lowered Fat Free Mass and a high fat percentage.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Proven mitochondrial m.3243A>G mutation
- •Age > 18 years
- •No medical contra indication for receiving Nutritional Assessment after overnight fasting
- •Informed consent
排除标准
- •Overnight fasting is contraindicated for medical reasons, for example due to high risk for hypoglycemia.
- •Pacemaker
- •Claustrophobia
结局指标
主要结局
Nutritional Status
时间窗: 3- 6 months
Patient Generated- Subjective Global Assessment (Pg-SGA)
次要结局
- antropometric(3- 6 months)
- Activity(3-6 months)
- body composition(3- 6 months)
- waist circumference(3- 6 months)
- upper arm circumference(3- 6 months)
- food intake(3- 6 months)
- occurrence of gastrointestinal problems(3- 6 months)
- hand grip strength(3- 6 months)
- fatigue(3- 6 months)
- quality of life(3- 6 months)