Clinical Trial: DINAMITE Study Nutritional State and Effect Diet in Mitochondrial Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: 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&

Brief Summary:

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.


Detailed Summary:

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.

Study design:

Part 1 comprises a comprehensive Nutr
Sponsor: Radboud University

Current Primary Outcome: Nutritional Status [ Time Frame: 3- 6 months ]

Patient Generated- Subjective Global Assessment (Pg-SGA)


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Activity [ Time Frame: 3-6 months ]
    measured with sensewear in Kcal
  • body composition [ Time Frame: 3- 6 months ]
    measured with bioimpedance analysis (FFMI)
  • waist circumference [ Time Frame: 3- 6 months ]
    (cm)
  • upper arm circumference [ Time Frame: 3- 6 months ]
    (cm)
  • antropometric [ Time Frame: 3- 6 months ]
    BMI
  • food intake [ Time Frame: 3- 6 months ]
    measured by 3 day eating report
  • occurrence of gastrointestinal problems [ Time Frame: 3- 6 months ]
    questionaire
  • hand grip strength [ Time Frame: 3- 6 months ]
    Kg
  • fatigue [ Time Frame: 3- 6 months ]
    measured with the CIS (Checklist Individual tension) fatigue
  • quality of life [ Time Frame: 3- 6 months ]
    Short Form (SF)-36


Original Secondary Outcome: Same as current

Information By: Radboud University

Dates:
Date Received: October 31, 2014
Date Started: March 2014
Date Completion:
Last Updated: April 13, 2017
Last Verified: April 2016