NCT03213067

Mitochondrial and Microbiota Relationship

Completed Last updated 26 June 2019

What this trial tests

trial in Mitochondrial Diseases in 40 participants. Completed in 2 February 2019.

Timeline

11 April 2017

Primary endpoint
2 February 2019

2 February 2019

Quick facts

Lead sponsor	Newcastle University
Status	Completed
Study type	OBSERVATIONAL
Enrollment	40
Start date	11 April 2017
Primary completion	2 February 2019
Estimated completion	2 February 2019
Sites	1 location across United Kingdom

Conditions studied

• Mitochondrial Diseases — all drugs for Mitochondrial Diseases →

Sponsor

Newcastle University

Who can join

18 and older, any sex, with Mitochondrial Diseases. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.