The Natural History of Mitochondrial Diseases

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
SUMMARY

The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases) The goal of this observational study (non-randomised retrospective and prospective) is to fully characterise primary MITO disease; that includes both sexes/genders, over 18 years of age and healthy volunteers\]. The main question\[s\] it aims to answer is to: • better characterise MITO phenotypes (organ involvement, severity, progression) and collect biospecimens to create a biobank that can be used for future biomarker discovery to improve early diagnosis, prognostication and management of mitochondrial disease. The study will be a longitudinal, retrospective, prospective, observational study of participants (400) with confirmed MITO and relevant controls followed for up to 10 years. Data will be collected at regularly scheduled standard-of-care (SOC), 6 to 12 monthly appointments. The 100 control participants will therefore be comprised of (i) unaffected asymptomatic family members of MITO participants with no genetic risk; (ii) participants with non-MITO movement disorders that are not classified as MITO by their clinical presentation and genetic tests (for example Parkinson's disease) and/or (iii) age-matched healthy controls recruited from the NeuRA database of volunteers. Demographic data, medical history, biochemical, histological, genetic, social and other clinical SOC data will be collected. Additionally, seizure and migraine frequency in participants who experience these, will be collected and a quality-of-life questionnaire (SF-12v2), as part of the validated neurological assessment using the Newcastle Mitochondrial Disease Adult Scale (NMDAS).

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:

• A clinical and/or genetically confirmed diagnosis of MITO.

• Individuals \> 18 years of age, managed by a specialist neurologist, with confirmed MITO

• Control participants will comprise asymptomatic relatives of confirmed MITO patients with no clinical or genetic evidence of MITO; clinically confirmed non-MITO movement disease controls (from other clinics at NeuRA) or age/gender-matched healthy participants.

Locations
Other Locations
Australia
Neuroscience Research Australia
RECRUITING
Randwick
Contact Information
Primary
Judith S Walker, PhD
j.walker@neura.edu.au
0490093047
Backup
Deborah McKay
d.mckay@neura.edu.au
+6123991676
Time Frame
Start Date: 2024-05-07
Estimated Completion Date: 2034-05-07
Participants
Target number of participants: 500
Treatments
MITO participants/patients
400 MITO patients will be observed over 10 years and having a confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain, or patients meeting the clinical diagnostic criteria for MITO using consensus scoring systems such as the Walker Criteria, or the Nijmegen criteria
Patients with a clinically confirmed non-MITO neuromuscular disorder
The study will form a 10-year, longitudinal, non-randomised, retrospective, and prospective, observational study of patients with MITO using controls who may be:~* asymptomatic biological relatives of MITO participants/patients~* patients with a clinically confirmed non-MITO neuromuscular disorder, or
Age and gender-matched healthy controls.
Age/gender-matched healthy controls will be recruited from the NeuRA database of volunteers
Sponsors
Leads: Neuroscience Research Australia

This content was sourced from clinicaltrials.gov