MDP in mtDNA Deletions
Research type
Research Study
Full title
Muscle disease progression in mitochondrial DNA deletions
IRAS ID
274666
Contact name
Tiago Gomes
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
This study is aimed at improving our knowledge of disease progression with age in patients with mitochondrial disease, specifically progression in relation to muscle pathology (muscle structure and biology) and symptoms.
Patients with mitochondrial disease often experience muscle myopathy (weakness) and other clinical features associated with this, including fatigue, mobility problems and exercise intolerance. Frequently these symptoms are not present at birth but develop later in life and progress (worsen) over time.
Errors (mutations) in mitochondrial DNA are responsible for mitochondrial dysfunction (failure of the mitochondria to work properly) in a number of mitochondrial disorders. We know from previous studies that the ratio of mutated mitochondrial DNA to non-mutated mitochondrial DNA within individual cells (known as heteroplasmy) can affect the mitochondrial function and severity of the symptoms experienced (i.e. higher heteroplasmy often indicates worse symptoms). However this relationship, and in particular heteroplasmy versus muscle pathology and symptom progression over time, is not straightforward or currently well understood. There is much variation in progression amongst patients who possess the same, or similar, genetic mutations and even amongst patients with similar heteroplasmy levels. Additionally, little is known about other biological pathways that may contribute to this variability and especially to the rate of disease progression with age.
Understanding the mechanisms involved in disease progression and variation of muscle pathology over time will provide a useful insight into mitochondrial disease and help to inform future outcome measures, diagnostic tools and treatment targets.
In this study we hope to investigate in detail, the progression of muscle pathology over time in patients with a specific type of mitochondrial dysfunction (caused by deletions in mitochondrial DNA).
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
20/NE/0016
Date of REC Opinion
20 Jan 2020
REC opinion
Favourable Opinion