Nutritional Assessment in Mitochondrial Cytopathy

NCT02375438 | Completed DMC

• 3 other identifiers: 242/14Insel 2660KEK 242/14
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Mitochondrial Diseases; Mitochondrial Myopathies; Mitochondrial Cytopathies

Keywords

nutrition; mitochondrial cytopathy; malnutrition; energy intake; nutritional risk

Outcome Measures

Primary Outcomes (1)

• 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)

  At baseline

Secondary Outcomes (5)

• Differences in nutritional risk (Measured in NRS2002)

  At baseline

• Differences in nutritional status Measured in laboratory parameters (blood and urine)

  At baseline

• Difference in body composition Measured in bioimpedance analysis BIA and anthropometrics (TSF [mm], MAMC (cm^2), Handgrip test (kg))

  At baseline

• Difference in resting energy expenditure Measured in kcal (indirect calorimetry)

  At baseline

• Difference in quality of life Measured in SF36v2 score

  At baseline

Study Arms (2)

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

• Patients with poor knowledge of the study languages (German and French)

Sponsors & Collaborators

• Insel Gruppe AG, University Hospital Bern: lead

Study Sites (1)

Department of Endocrinology, Diabetes and Clinical Nutrition, Bern University Hospital

Bern, Canton of Bern, 3110, Switzerland

Location

Related Publications (4)

• 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.

  PMID: 14639582 BACKGROUND

• El-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.

  PMID: 23385875 BACKGROUND

• Sorensen 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.

  PMID: 18504063 BACKGROUND

• Kondrup 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.

  PMID: 12765673 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, urine. All samples collected in this study (blood and urinary) will be sent to a central biobank for long term storage.

MeSH Terms

Conditions

Mitochondrial Diseases; Mitochondrial Myopathies; Mitochondrial cytopathy; Malnutrition

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Nutrition Disorders

Study Officials

• Zeno Stanga, Prof. Dr. med. MD

  Department of Endocrinology, Diabetes and Clinical Nutrition University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 24, 2015
• First Posted: March 2, 2015
• Study Start: December 1, 2014
• Primary Completion: December 1, 2015
• Study Completion: March 1, 2016
• Last Updated: April 6, 2016

Record last verified: 2016-04

Locations

CH (1)