Detection of pathogenic mitochondrial DNA variants Genetic Diseases
Conditions
Interventions
This study will involve the assessment of faecal samples from adult (n = 30) and paediatric patients (n = 20) with mitochondrial disease.
Patients will be identified for the study by the direct clini
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. A genetically confirmed diagnosis of mitochondrial disease, specifically, the common m.3243A> G variant. 2. Adults aged >=16 years old 3. Paediatrics aged <16 years old 4. Have ability, in the opinion of the recruiting investigator to undergo all study assessments and investigations. 5. Capable of providing informed consent
Exclusion criteria
Exclusion criteria: 1. Currently have a confirmed bowel obstruction 2. Received surgery on the gastrointestinal tract in last 12 months 3. New drug regime within the 3 months prior to providing a faecal sample 4. Participating in any study that may influence the gastrointestinal tract three months prior to study commencement.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Mitochondrial DNA (mtDNA) heteroplasmy level (percentage heteroplasmy) detected from faecal samples at a single time-point, compared to mtDNA heteroplasmy levels reported from previous clinical samples. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Confirmation of whether mtDNA variants that may be present can be detected via whole genome sequencing of mtDNA extracted from faecal samples 2. Determination of whether faecal samples as a diagnostic approach are acceptable to patients via collection of participant feedback during focus group discussion. | — |
Countries
England, United Kingdom
Outcome results
None listed