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Mitochondrial and Microbiota Relationship

NCT03213067 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2019-06-26

No results posted yet for this study

Summary

Gastrointestinal (GI) dysmotility in patients with mitochondrial disease are increasingly recognized and often include dysphagia, abdominal pain, abdominal distention, bacterial overgrowth, constipation, and in severe cases surgery. Although the proposed pathological mechanisms underlying the development of GI dysmotility remain diverse, potential mechanisms include mitochondrial dysfunction of smooth muscle within the GI tract and visceral myopathy. Moreover, bacteria within the GI tract, termed 'gut microbiota' has also been identified as a key contributor towards GI dysmotility.

Aim: The aim of this study is to assess the role that the gut microbiota has on clinical disease expression in patients with mitochondrial disease.

Objectives: This is a feasibility study to assess:

1. How does clinical disease severity impact upon the gut microbiota in mitochondrial patients compared to healthy controls.
2. How diagnostic and therapeutic approaches for mitochondrial disease be improved.

Methods: This is a pilot study and is part of the Newcastle Mitochondrial Research Biobank. Stool samples will be collected from patients with a Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes (MELAS) phenotype carrier of the m.3243 A\>G mutation (N=20) from the United Kingdom Medical Research Council (MRC) Centre for Mitochondrial Disease Patient Cohort (RES/0211/7552, the largest cohort of mitochondrial patients in the world) and the mitochondrial clinic and age and gender matched healthy controls (N=20). DNA will be extracted from stool samples and the 16S rRNA gene (V4 region) will be sequenced. This data will be analysed using bioinformatics pipelines and computational biology.

Long Term Goal: To generate novel information relating to how the gut microbiota impacts upon clinical disease expression. This information could then be used to build a predictive model designed to optimise diagnosis and therapeutic treatments. This method also holds potential for use as a model for ageing and diseases associated with mitochondria not working properly, such as diabetes, cancer and Parkinson's disease. This research has the potential to reduce costs to the NHS and improve patient care and their quality of life.

Conditions

  • Mitochondrial Diseases

Sponsors & Collaborators

  • Newcastle-upon-Tyne Hospitals NHS Trust

    collaborator OTHER

  • Newcastle University

    lead OTHER

Principal Investigators

  • Grainne Gorman, MD · Consultant Neurologist and Clinical Senior Lecturer

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-04-11
Primary Completion
2019-02-02
Completion
2019-02-02

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03213067 on ClinicalTrials.gov