Leigh syndrome Nervous System Diseases
Conditions
Interventions
This study will involve 20 participants (aged between 0 and 75 years) with a genetically confirmed diagnosis of a Leigh syndrome spectrum (LSS) disorder. Each participant will be followed up for (up t
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Age
0 Years to 75 Years
Inclusion criteria
Inclusion criteria: 1. Be aged <=75 years at the start of study (baseline) 2. Have a genetically confirmed diagnosis of a Leigh syndrome spectrum (LSS) disorder 3. Be able to provide informed consent (consent on behalf of participants aged <16 years will be obtained from a parent/individual with parental responsibility) or 4. For adult participants lacking mental capacity, have an appropriate consultee to provide their opinion on participation, in compliance with the Mental Capacity Act 2005. The consultee will be a family member, caregiver, or another individual who knows the participant well and can offer insights into their preferences, values, and best interests
Exclusion criteria
Exclusion criteria: Potential participants will not be eligible if they: 1. Have a genetic disease other than primary mitochondrial disease (e.g., Down syndrome), including genetic diseases with secondary mitochondrial dysfunction 2. Are unable, in the opinion of the recruiting investigator, to complete study assessments
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Disease severity measured using the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) or Newcastle Mitochondrial Disease Adult Scale (NMDAS) at baseline and every 6 months for up to 3 years;Dystonia severity measured using the Barry Albright Dystonia Scale (BADS) at baseline and every 3–6 months for up to 3 years;Movement disorder severity measured using the Movement Disorder Childhood Rating Scale (MDCRS) at baseline and every 3–6 months for up to 3 years;Ataxia severity measured using the Scale for the Assessment and Rating of Ataxia (SARA) at baseline and every 6 months for up to 3 years;Fatigue measured using the Modified Fatigue Impact Scale (MFIS) at baseline and every 3 months for up to 3 years;Health-related quality of life measured using the Paediatric Quality of Life Inventory (PedsQL) at baseline and every 3 months for up to 3 years;Caregiver burden measured using the Caregiver Burden Scale at baseline and every 3 months for up to 3 years;Daily symptoms and function measured using the Observer Reported Outcome (ObsRO) survey at baseline and every 3 months for up to 3 years;Functional ability measured using the Paediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) at baseline and every 3 months for up to 3 years | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Respiratory function, cardiac function, growth, acute decompensation events, infection history, hospitalisations, and other disease-related clinical outcomes collected from medical records at baseline and throughout follow-up for up to 3 years 2. Acute adverse events (including metabolic decompensation, seizures, stroke and infections) recorded throughout the study period for up to 3 years | — |
Countries
England, United Kingdom
Contacts
Public ContactClare Massarella
Outcome results
None listed