Mitochondrial Diseases Clinical Trial
Official title:
Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy
The aim of this study is to assess nutritional intake (quantitatively and qualitatively), nutritional state and body composition of patients suffering from mitochondrial cytopathy, compared to healthy controls. The energy intake will be calculated through dietary protocols, the energy expenditure by indirect calorimetry and body composition will be performed with bio-impedance analysis. Further on, the investigators expect to be able to provide nutritional counselling to this population in order to increase energy and protein intake, which may improve health and well-being.
Background
Mitochondrial diseases are a group of genetic disorders. The prognosis for patients with
mitochondrial myopathies varies greatly, depending largely on the type of disease and the
degree of involvement of various organs. This situation can lead into malnutrition and worse
the outcome. In the literature there are no data, which deal with malnutrition or
nutritional intake in patients with mitochondrial myopathy. Sorensen et al. assessed the
malnutrition risk in European hospitals and showed that 45% of patients with neurological
illness (neurological vascular disease excluded) are at high risk of malnutrition.
Furthermore, the patient at risk exhibited higher rates of complications and mortality.
These findings suggest that malnutrition play an important role in the clinical outcome of
this patient's population, reflecting the investigators' many years of experience. In
several case reports, it was shown that malnutrition itself could aggravate myopathy.
Sometimes there are challenging symptoms facing patients with mitochondrial myopathy that
interfere with obtaining balanced and healthy nutrition, such as fatigue, muscle weakness,
dysmotility, dysphagia, nausea and vomiting, ataxia, and reflux. In addition, in the
investigators' clinical experience, they see many patients who describe that some specific
food intake would even modify their symptoms.
This is an observational cohort study, and the investigators expect a total sample size of
30 patients and 20 healthy age- and sex-matched controls. The entire study will be conducted
during the period from first of October 2014 till End of March 2015.
The investigator is a pharmacy student (master level) interested in clinical nutrition. She
will collect the data und do all measurements along with the support of the clinical
nutrition research team of the University Hospital of Bern. The investigator will contact
the patients individually and arrange a suitable timetable for the interview and
examination. Sex, age, current medical conditions, current myopathy symptoms, current
gastrointestinal symptoms, unintentional weight loss, eating and drinking habits, living and
social situation, daily activity, medications (in particular those drugs that interfere with
the mitochondrial metabolism as valproic acid, statins, and certain antibiotics like
aminoglycosides, etc.) smoking, alcohol intake, and main diagnosis will be recorded. The
investigators will preform the following measurements: basic demographic data, structured
patient interviews, dietary questionnaire, nutritional risk screening, quality of life,
physical functioning, body composition, energy expenditure, blood and urine analysis. The
study will be conducted in accordance with the ethical guidelines of the 1957 Declaration of
Helsinki, and informed consent will be obtained from all participants. The healthy
volunteers and patients will not be exposed to any risk due to this study.
Objective
The aim of this study is to assess the nutritional intake and the nutritional state of
patients with mitochondrial myopathy compared to healthy controls. The investigators expect
to be able to provide general nutritional advice (nutritional counselling) to increase the
ingestion of balanced/healthy food and the energy intake, and therefore they expect to
improve health and well-being in this population.
Methods
Questionnaire, indirect calorimetry, bioimpedance analysis BIA, Hand grip test,
Anthropometrics and 7-days food recall protocol
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Observational Model: Cohort, Time Perspective: Prospective
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