Clinical trials and patient studies are an essential part of developing new treatments to prevent, diagnose or treat diseases like mito. By participating in a study, you can contribute to medical advancements that will ultimately improve health outcomes for you and the entire mito community.
People on the Mito Registry are contacted directly about upcoming clinical trials and studies relevant to them. So they are among the first to access innovative new treatments. If you wish to be notified of upcoming studies and clinical trials, please join the Mito Registry now.
Current Studies
Research Institute: Royal North Shore Hospital; Royal Adelaide Hospital;Calvary Health Care Bethlehem & Alfred Hospital
Purpose of Study:
Patients with mitochondrial disease commonly experience exercise intolerance and fatigue. There are limited therapeutic options for these problems and research efforts are focused on developing treatments.
The STRIDE study is one such research project. It is an international multicenter Phase 2b clinical drug trial in patients with mitochondrial disease comparing investigational study drug with a placebo (dummy drug).
Eligibility Criteria:
Australia has been selected for recruitment of volunteer adult patients with mitochondrial disease who have a confirmed mitochondrial DNA mutation and involvement of their muscles (myopathy).
Get Involved: Visit here to find a site near you.
What is the project about?
Genomic sequencing is increasingly being used to find a diagnosis in many individuals with rare disease. However, more than half do not receive a genetic diagnosis when the test is done and we know that looking at their data again after a couple of years will produce answers for about 10% of people. Using technology to analyse genomic data automatically might improve this process. This will enable more data to be reanalysed more often than is possible at present. This is called automated reanalysis.
However, there is currently no common way that all states agree on as to how automated reanalysis could work in practice. This study aims to investigate the perspectives and preferences of patients and their families who will be impacted by an automated process for reanalysis, in order to inform such a strategy.
Who is running the project?
This project is being conducted by researchers at the Murdoch Children's Research Institute and the Centre for Population Genomics at the Garvan Institute of Medical Research, and led by the Principal Investigator, Professor Zornitza Stark.
This part of the research project is being led by Dr Danya Vears and Dr Fiona Lynch, members of the Biomedical Ethics Research Group (BERG) at the Murdoch Children's Research Institute.
This project is being funded by the Australian Government through the Medical Research Future Fund, as part of the Genomics Health Futures Mission (Grant number APP2008820).
Why does Mito Foundation think you should consider being involved?
There is no direct benefit to you from taking part in this research. However, participating in a focus group for this project will give you a chance to talk about your views about automated reanalysis of genomic sequencing data. The information you provide will help the research team develop ways to integrate automated reanalysis into patient care.
How do you get involved?
You can participate in this study if you are a person or a parent/guardian/carer of a person who has a rare condition like mito, and/or who has received genome (or exome) sequencing in Australia.
You are eligible to participate if you are over the age of 18 and currently living in Australia.
The study will involve taking part in a focus group which will be conducted online via Zoom. Each focus group will include between 4 and 6 participants. The focus group will take 1.5 hours and be scheduled at a time that is convenient for you and the other participants. You will receive a $75 Woolworths voucher to reimburse you for your time after taking part in the focus group.
The researchers leading this study will select the participants who will take part in the focus group. We estimate that a small number of mito community members will be selected.
Are there any risks?
The researchers consider your participation in this project to be low risk. There is the potential risk that you may not feel comfortable speaking in a group setting or using Zoom. However, the focus groups will be facilitated by experienced researchers who will try to create a comfortable environment for all participants and be able to guide you in how to use Zoom.
If you want to participate in a focus group, please complete this form with your details.
Contact information
If you have any questions about the project, you can contact Dr Danya Vears via email at danya.vears@mcri.edu.au.
What is the project about?
Who is running the project?
Why does Mito Foundation think you should consider being involved?
How do you get involved?
Research Institute: University of Melbourne
Purpose of Study:
Have you received a confirmed genetic diagnosis for mitochondrial disease (mito) between November 2012 and December 2020? Then, you may be eligible to participate in a study exploring what motivates adults impacted by mito to undergo genetic testing. Very little research has been done in this area and the study hopes to use this information to inform healthcare providers about the motivations for genetic testing and its impact.
Eligibility Criteria:
- Have a confirmed genetic diagnosis of a mitochondrial disease
- Have received that genetic diagnosis between November 2012 and December 2020
- Be over the age of 18
Be able to give consent or have consent given on your behalf by a carer or family member
Research Institute: Monash University
Purpose of Study:
The use of genetic information is concerning to many, especially in the context of life insurance. This research aims to understand the views and experiences of people who have had genetic testing, or are eligible for testing, for gene changes which increase the risk of developing disease.
Eligibility Criteria:
The survey is open to adult Australians who have had or would consider having a genetic test to diagnose mitochondrial disease (mito) or other genetic conditions.
Research Institute: UNSW Sydney and The Sydney Children’s Hospital Network
Purpose of Study: To understand their experiences and expectations of advanced therapies in paediatric neurology.
Eligibility Criteria: Parents of a child with mitochondrial disease.
Research Institute: University of Melbourne
Purpose of Study: To explore what motivates parents with children impacted by mito to undergo genetic testing. Very little research has been done in this area and the study hopes to use this information to inform healthcare providers about the motivations for genetic testing and its impact.
Eligibility Criteria: Parents of a child with mitochondrial disease.
Get Involved: Please contact our helpline
Research Institute: University of Calgary in Canada
Purpose of Study: To examine dietary patterns and supplements used to manage mito. This information will serve as a foundation to streamline care and inform supplement and diet recommendations.
Eligibility Criteria: All individuals impacted by mito
Get Involved: Please contact our helpline
Research Institute: The Kinghorn Centre for Clinical Genomics, part of the Garvan Institute of Medical Research
Purpose of Study: The purpose of this study is to understand the information needs of people who receive genetic results.
Eligibility Criteria: Adults (aged 18+) with mitochondrial disease (mito) or caring for someone with mito.