POLG-related mitochondrial disease Nervous System Diseases
Conditions
Interventions
At the Screening/Baseline visit, participants will be asked to provide written informed consent and eligibility will be confirmed in writing. The following study assessments will then be conducted:
1.
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Be aged >=16 years and <=75 years at the start of study (Baseline) 2. Have the ability, in the opinion of the study team, to participate in study activities 3. Have the mental capacity to provide informed consent 4. Have sufficient basic understanding of written and spoken English in order to complete the study questionnaires/assessments 5. Have a genetically confirmed diagnosis of POLG-related mitochondrial disease 6. Be willing to wear three sensors (lower back and both feet) and keep an activity diary for three consecutive days 7. Have no other known neurological or musculoskeletal disorder significantly affecting balance and mobility
Exclusion criteria
Exclusion criteria: 1. Are aged 75 years 2. Have a significant learning disability or cognitive impairment that limits the individual’s ability to provide informed consent 3. Do not have a sufficient understanding of written or spoken English for completion of study questionnaires/assessments 4. Are enrolled in an interventional study or clinical trial at the time of recruitment, or have participated in an interventional study/trial within four weeks of baseline 5. Are pregnant at the time of enrolment 6. Have been hospitalised for refractory seizures in the preceding three months and/or have required frequent adjustment of anti-seizure medications
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. The feasibility of monitoring real-world mobility (habitual activity and gait) in ambulatory patients with POLG-related mitochondrial disease via instrumented measures of balance and gait using wearable sensors in a controlled setting at baseline, month 6 and month 12 2. Attrition rate assessed using the number of participants who consent to participate who remain in the study until the end of follow-up at 12 months | — |
Secondary
| Measure | Time frame |
|---|---|
| All measures will be performed at baseline, 6 months and 12 months depending on participants' abilities: 1. Disease severity will be measured using the Newcastle Mitochondrial Disease Adult Scale (NMDAS) Sections I, II and III 2. Severity of ataxia will be measured using the Scale for Assessment and Rating of Ataxia (SARA) 3. Balance and gait will be assessed using wearable sensors to evaluate postural sway, gait within the gait laboratory and habitual physical activity in the free-living environment. A clinical assessment of gait will be measured by the Functional Gait Assessment. 4. Upper limb coordination will be measured using the nine-hole pegboard test 5. Cognitive function will be measured using the Montreal Cognitive Assessment (MOCA) and Cerebellar Cognitive Affective Scale (CCAS) 6. Patient-reported outcomes: 6.1. Falls and balance measured using the Falls Efficacy Scale-International (FES-I) and the Activities-specific Balance Confidence (ABC) scale. 6.2. Fatigue measured using the Fatigue Severity Scale (FSS) 6.3. Ataxia measured using the Patient-Reported Outcome Measure of Ataxia (PROMA) 6.4. Quality of life measured using EQ-5D-3L and the Newcastle Mitochondrial QoL Questionnaire (NMQ) 6.5. Disease severity measured using the Patient Global Impression (PGI) Scales for Severity (PGI-S) (Baseline) and Change (PGI-C) (6 months, 12 months) 7. Fluid biomarkers including creatinine kinase, serum lactate, serum neurofilament light chain, FGF21, GDF15 and circulating cell free mitochondrial DNA | — |
Countries
England, Germany, Scotland, United Kingdom
Outcome results
None listed