Mitochondrial Diseases Clinical Trial
Official title:
Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment.
NCT number | NCT03213067 |
Other study ID # | Version 1 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | April 11, 2017 |
Est. completion date | February 2, 2019 |
Verified date | June 2019 |
Source | Newcastle University |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational [Patient Registry] |
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.
Status | Completed |
Enrollment | 40 |
Est. completion date | February 2, 2019 |
Est. primary completion date | February 2, 2019 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 18 Years and older |
Eligibility |
Inclusion Criteria: 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. Exclusion Criteria: - 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. |
Country | Name | City | State |
---|---|---|---|
United Kingdom | Grainne Gorman | Newcastle upon Tyne | Tyne And Wear |
Lead Sponsor | Collaborator |
---|---|
Newcastle University | Newcastle-upon-Tyne Hospitals NHS Trust |
United Kingdom,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 16S rRNA gene | DNA will be extracted from stool samples and the 16S rRNA gene (V4 region) will be sequenced. | 6 months |
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