Mitochondrial and Microbiota Relationship

NCT03213067 | Completed DMC

• 1 other identifier: Version 1
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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

Conditions

Mitochondrial Diseases

Outcome Measures

Primary Outcomes (1)

• 16S rRNA gene

  DNA will be extracted from stool samples and the 16S rRNA gene (V4 region) will be sequenced.

  6 months

Study Arms (2)

Mitochondrial Disease Patients

* Male and Females \>18 years at the time of screening * Patients must have proven genetic disease (confirmed by assessment of heteroplasmy in blood and urine samples) of the m.3243 A\>G mutation. * Capacity to provide informed consent taken before any study related activities. * Ability and willingness to adhere to the protocol, including all appointments. * Ability to read and converse in English.

Healthy Control Group

* Male and Females \>18 years at the time of screening * Capacity to provide informed consent taken before any study related activities. * Ability and willingness to adhere to the protocol, including all appointments. * Ability to read and converse in English.

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

Mitochondrial diseases are an important group of inherited neurometabolic disorders that invariably exhibit multi-organ involvement, are relentlessly progressive, and result in significant morbidity and mortality. They may manifest as discrete clinical syndromes such as mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes (MELAS), chronic and progressive external ophthalmoplegia (CPEO), and maternally inherited deafness and diabetes (MIDD), or more commonly with a wide overlapping spectrum of clinical features, including hypertrophic cardiomyopathy and gastrointestinal (GI) dysmotility (Gorman et al., 2016; Taylor \& Turnbull, 2005).

You may qualify if:

• Mitochondrial Patients
• Male and Females \>18 years at the time of screening
• Patients must have proven genetic disease (confirmed by assessment of heteroplasmy in blood and urine samples) of the m.3243 A\>G mutation.
• Capacity to provide informed consent taken before any study related activities.
• Ability and willingness to adhere to the protocol, including all appointments.
• Ability to read and converse in English.
• Healthy Controls
• Male and Females \>18 years at the time of screening
• Capacity to provide informed consent taken before any study related activities.
• Ability and willingness to adhere to the protocol, including all appointments.
• Ability to read and converse in English.

You may not qualify if:

• Previous history of contraindicated conditions including stroke, brain lesion(s) or tumour.
• Abnormal clinical results as determined by physician.
• Patient without capacity to provide informed consent.
• Patient's unwillingness to adhere to the protocol, including all appointments.
• Language barriers preventing patients from reading and conversing in English.

Sponsors & Collaborators

• Newcastle University: lead
• Newcastle-upon-Tyne Hospitals NHS Trust: collaborator

Study Sites (1)

Grainne Gorman

Newcastle upon Tyne, Tyne and Wear, NE2 4HH, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be extracted from stool samples and the 16S rRNA gene (V4 region) will be sequenced. The DNA will then be stored in the Newcastle Mitochondrial Research Biobank

MeSH Terms

Conditions

Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Grainne Gorman, MD

  Consultant Neurologist and Clinical Senior Lecturer

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2017
• First Posted: July 11, 2017
• Study Start: April 11, 2017
• Primary Completion: February 2, 2019
• Study Completion: February 2, 2019
• Last Updated: June 26, 2019

Record last verified: 2019-06

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)