Mitochondrial DiseasesNAMITONCT02375438
Nutritional Assessment in Mitochondrial Cytopathy
An observational study of Mitochondrial Diseases and Mitochondrial Myopathies, run by Insel Gruppe AG, University Hospital Bern at 1 site in Switzerland.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Cytopathies
- How many people
- 26 participants
- Where
- 1 siteSwitzerland
- Study dates
- Dec 2014to Mar 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The patients affected by mitochondrial cytopathy from the outpatient's clinic of the Department of Neurology of the University Hospital of Bern who fulfill the inclusion criteria will be asked to participate in the study. All potential participants will be provided with a patient information sheet and will be given adequate time to consider participation in the study. Those who will participate will be asked to provide written informed consent.
Who may be able to join
- Patients with a clinical presentation suggestive of mitochondrial cytopathy, in whom mitochondrial deletions above 20% have been found in muscle
- =/>18 years
- Willing and able to give written informed consent
Who cannot join
- Patients with poor knowledge of the study languages (German and French)
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
Department of Endocrinology, Diabetes and Clinical Nutrition, Bern University Hospital
Bern, Canton of Bern, 3110
About this study
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.
Read the detailed description
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
- Keywords
- nutrition, mitochondrial cytopathy, malnutrition, energy intake, nutritional risk
- Medical subject headings
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial cytopathy, Malnutrition
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cohort Group | Patients with a clinical presentation suggestive of mitochondrial cytopathy, in whom mitochondrial deletions above 20% have been found in muscle are considered eligible if they are older than 18 years and are willing and able to give written informed consent. | |
| Control Group | Twenty healthy individuals matched for age and gender will be included in the study and considered as controls. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Energy and nutrients intake (Measured in kcal)
Measured in kcal (7 days food recall protocol to check for nutrients which aggravate symptoms \& to provide nutritional counselling)
Measured: At baseline
Secondary outcomes (5)
Differences in nutritional risk (Measured in NRS2002)
Measured in NRS2002 score points
Measured: At baseline
Differences in nutritional status Measured in laboratory parameters (blood and urine)
Measured in laboratory parameters (blood and urine)
Measured: At baseline
Difference in body composition Measured in bioimpedance analysis BIA and anthropometrics (TSF [mm], MAMC (cm^2), Handgrip test (kg))
Measured: At baseline
Difference in resting energy expenditure Measured in kcal (indirect calorimetry)
Measured in kcal (indirect calorimetry)
Measured: At baseline
Difference in quality of life Measured in SF36v2 score
Measured in SF36v2 score
Measured: At baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Mar 2015 (estimated)
- Study startDec 2014
- Primary completionDec 2015
- Study completionMar 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Mitochondrial DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 26 participants (actual)
Sponsor and investigators
- Lead sponsor
- Insel Gruppe AG, University Hospital Bern
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Zeno Stanga, Prof. Dr. med. MD, Principal investigator, Department of Endocrinology, Diabetes and Clinical Nutrition University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02375438
- Sponsor's protocol ID
- 242/14
- Other IDs
- Insel 2660, KEK 242/14
- Acronym
- NAMITO
- Status last verified
- Apr 2016
- First submitted
- 24 Feb 2015
- Last updated
- 6 Apr 2016
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Arpa J, Cruz-Martinez A, Campos Y, Gutierrez-Molina M, Garcia-Rio F, Perez-Conde C, Martin MA, Rubio JC, Del Hoyo P, Arpa-Fernandez A, Arenas J. Prevalence and progression of mitochondrial diseases: a study of 50 patients. Muscle Nerve. 2003 Dec;28(6):690-5. doi: 10.1002/mus.10507.
PubMed 14639582El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6.
PubMed 23385875Sorensen J, Kondrup J, Prokopowicz J, Schiesser M, Krahenbuhl L, Meier R, Liberda M; EuroOOPS study group. EuroOOPS: an international, multicentre study to implement nutritional risk screening and evaluate clinical outcome. Clin Nutr. 2008 Jun;27(3):340-9. doi: 10.1016/j.clnu.2008.03.012. Epub 2008 May 27.
PubMed 18504063Kondrup J, Rasmussen HH, Hamberg O, Stanga Z; Ad Hoc ESPEN Working Group. Nutritional risk screening (NRS 2002): a new method based on an analysis of controlled clinical trials. Clin Nutr. 2003 Jun;22(3):321-36. doi: 10.1016/s0261-5614(02)00214-5.
PubMed 12765673
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy
- ClinicalTrials.gov ID
- NCT02375438
- Acronym / sponsor ID
- NAMITO / 242/14
- Keywords
- nutrition, mitochondrial cytopathy, malnutrition, energy intake, nutritional risk
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 26 participants (actual)
- Lead sponsor
- Insel Gruppe AG, University Hospital BernUniversity, hospital or other
- Study start
- Dec 2014
- Primary completion
- Dec 2015 (actual)
- Study completion
- Mar 2016 (actual)
- First posted
- 2 Mar 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort Group | – | –Patients with a clinical presentation suggestive of mitochondrial cytopathy, in whom mitochondrial deletions above 20% have been found in muscle are considered eligible if they are older than 18 years and are willing and able to give written informed consent. |
| Control Group | – | –Twenty healthy individuals matched for age and gender will be included in the study and considered as controls. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The patients affected by mitochondrial cytopathy from the outpatient's clinic of the Department of Neurology of the University Hospital of Bern who fulfill the inclusion criteria will be asked to participate in the study. All potential participants will be provided with a patient information sheet and will be given adequate time to consider participation in the study. Those who will participate will be asked to provide written informed consent.
Key inclusion criteria (3 listed)
- Patients with a clinical presentation suggestive of mitochondrial cytopathy, in whom mitochondrial deletions above 20% have been found in muscle
- =/>18 years
- Willing and able to give written informed consent
Key exclusion criteria (1 listed)
- Patients with poor knowledge of the study languages (German and French)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Energy and nutrients intake (Measured in kcal)
Time frame: At baseline
Measured in kcal (7 days food recall protocol to check for nutrients which aggravate symptoms \& to provide nutritional counselling)
5 secondary outcomes
Differences in nutritional risk (Measured in NRS2002)
Time frame: At baseline
Differences in nutritional status Measured in laboratory parameters (blood and urine)
Time frame: At baseline
Difference in body composition Measured in bioimpedance analysis BIA and anthropometrics (TSF [mm], MAMC (cm^2), Handgrip test (kg))
Time frame: At baseline
Difference in resting energy expenditure Measured in kcal (indirect calorimetry)
Time frame: At baseline
Difference in quality of life Measured in SF36v2 score
Time frame: At baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2016.
- Background: PubMed 14639582Arpa J, Cruz-Martinez A, Campos Y, Gutierrez-Molina M, Garcia-Rio F, Perez-Conde C, Martin MA, Rubio JC, Del Hoyo P, Arpa-Fernandez A, Arenas J. Prevalence and progression of mitochondrial diseases: a study of 50 patients. Muscle Nerve. 2003 Dec;28(6):690-5. doi: 10.1002/mus.10507.
- Background: PubMed 23385875El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6.
- Background: PubMed 18504063Sorensen J, Kondrup J, Prokopowicz J, Schiesser M, Krahenbuhl L, Meier R, Liberda M; EuroOOPS study group. EuroOOPS: an international, multicentre study to implement nutritional risk screening and evaluate clinical outcome. Clin Nutr. 2008 Jun;27(3):340-9. doi: 10.1016/j.clnu.2008.03.012. Epub 2008 May 27.
- Background: PubMed 12765673Kondrup J, Rasmussen HH, Hamberg O, Stanga Z; Ad Hoc ESPEN Working Group. Nutritional risk screening (NRS 2002): a new method based on an analysis of controlled clinical trials. Clin Nutr. 2003 Jun;22(3):321-36. doi: 10.1016/s0261-5614(02)00214-5.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Zeno Stanga, Prof. Dr. med. MD principal investigator
Department of Endocrinology, Diabetes and Clinical Nutrition University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Diseases and Mitochondrial Myopathies, run by Insel Gruppe AG, University Hospital Bern at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Apr 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Energy and nutrients intake (Measured in kcal) (time frame: At baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02375438, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2016.