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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06504433




Registration number
NCT06504433
Ethics application status
Date submitted
11/07/2024
Date registered
16/07/2024
Date last updated
16/07/2024

Titles & IDs
Public title
The Natural History of Mitochondrial Diseases
Scientific title
The Natural History of Mitochondrial Diseases
Secondary ID [1] 0 0
2024_ETH00044
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Mitochondrial Diseases 0 0
Neurological Diseases or Conditions 0 0
Parkinson Disease 0 0
Genetic Disease 0 0
Condition category
Condition code
Neurological 0 0 0 0
Parkinson's disease
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Metabolic and Endocrine 0 0 0 0
Metabolic disorders

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Diagnosis / Prognosis - Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain

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


Diagnosis / Prognosis: Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
This is a 10-year, longitudinal, non-randomised, retrospective and prospective, observational study that will be used to characterise the natural history of primary mitochondrial disease (MITO) in 400 participants and their asymptomatic family members (with no genetic risk), non-MITO healthy controls (100 participants) and form a biobank that can be used in future research using separate ethics approved protocols to identify biomarkers of disease onset and progression.
Intervention code [1] 0 0
Diagnosis / Prognosis
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Descriptive measures: The natural history of mitochondrial disease
Timepoint [1] 0 0
10 years
Secondary outcome [1] 0 0
The natural history of mitochondrial disease
Timepoint [1] 0 0
10 years

Eligibility
Key inclusion criteria
1. A clinical and/or genetically confirmed diagnosis of MITO.
2. Individuals > 18 years of age, managed by a specialist neurologist, with confirmed MITO
3. 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.
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
* • Those participants who do NOT match the inclusion criteria above

* Not willing to participate in the AMDC Clinical Registry
* Not willing to undergo genetic testing
* Not willing to provide consent

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
7/05/2024
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
7/05/2034
Actual
Sample size
Target
500
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
Neuroscience Research Australia - Randwick
Recruitment postcode(s) [1] 0 0
2031 - Randwick

Funding & Sponsors
Primary sponsor type
Other
Name
Neuroscience Research Australia
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Carolyn M Sue, MBBS
Address 0 0
Kinghorn Chair, Neuroscience Research Australia
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Judith S Walker, PhD
Address 0 0
Country 0 0
Phone 0 0
0490093047
Fax 0 0
Email 0 0
j.walker@neura.edu.au
Contact person for scientific queries

No information has been provided regarding IPD availability


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.

Results not provided in https://clinicaltrials.gov/study/NCT06504433