The Natural History of Mitochondrial Diseases

Plain-language summary

This is an observational study that aims to understand the natural course of mitochondrial diseases over time. It enrolls people over 18 with a clinically and/or genetically confirmed mitochondrial disease diagnosis, along with healthy relatives for comparison. It is a study with no assigned phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Neuroscience Research Australia

Intervention

Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain

Start date

5/7/2024

Estimated completion

5/7/2034

Countries

Australia

Related genes

Locations

• Randwick, Australia

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.

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