Not yet recruitingNAINTERVENTIONAL

Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers

Mitochondrial diseases are common but often hard to diagnose, with many patients waiting a long time for answers. This study is exploring a new, quicker, and more affordable way to test for these conditions. It focuses on changes in a specific part of our cells called mitochondrial DNA (mtDNA). When a person has a mitochondrial disease, their mtDNA can have both normal and faulty copies. This study aims to refine a technique called digital PCR to better measure these faulty copies in tiny muscle samples. If successful, this new method could help doctors more easily identify if certain mtDNA changes are causing a patient's symptoms, leading to faster and more accurate diagnoses for more people with mitochondrial diseases.

At a glance

Status

Not yet recruiting

Phase

Sponsor

Centre Hospitalier Universitaire de Nice

Enrolment target

Start

01 Jun 2026

Estimated completion

01 Jun 2029

Mitochondrial Disease

What is this study about?

Mitochondrial diseases are conditions that affect how our bodies get energy. They can cause a wide range of health problems because mitochondria, the 'powerhouses' of our cells, aren't working properly. Currently, diagnosing these diseases can be a long and difficult process, with many patients waiting years for a clear answer. This often happens because the genetic changes involved can be very varied, and it's hard to tell if a specific change is truly causing the disease.

This research is trying to make diagnosis easier and quicker. It focuses on mitochondrial DNA (mtDNA), which is found inside the mitochondria. In many mitochondrial diseases, people have a mix of normal and faulty mtDNA in their cells – this mix is called 'heteroplasmy.' Often, the more faulty mtDNA there is in a certain tissue, the more severe the problems in that tissue. Scientists can take tiny samples from muscle (called a muscle biopsy) and look at individual muscle fibers. Some fibers might show signs of not working well. The goal is to see if these 'unhealthy' fibers have a lot more faulty mtDNA compared to healthy fibers. Current ways to do this are often slow or expensive.

This study is developing a new technique called 'digital PCR' to measure these mtDNA changes much more efficiently. It's like having a very specific and sensitive DNA scanner. If this new method works well, it could significantly speed up the diagnostic process, reduce costs, and help doctors confirm diagnoses for many more patients. It could also help track the disease and measure the amount of mtDNA in the body, which is another important indicator of mitochondrial health.

Key takeaways

New test aims for faster, cheaper mitochondrial disease diagnosis.
Focuses on measuring faulty mitochondrial DNA (mtDNA) in muscle cells.
Uses a new technique called digital PCR for better accuracy.
Could help explain unclear genetic test results.
No new treatments, but could improve future patient care.
Uses existing tissue samples; no new muscle biopsy.

Who may be eligible?

To take part in this study, you or your child would need to have been seen by doctors at a special centre for mitochondrial diseases. You would also need to have signed a consent form, allowing your information and samples to be used for research. For children, both parents or guardians would usually need to sign.

The study is looking for people who doctors suspect might have a mitochondrial disease. This suspicion could come from their symptoms, certain blood tests, or findings from a muscle biopsy that suggest problems with how the body produces energy. Crucially, participants must have already had a genetic test that found a change in their mitochondrial DNA, but doctors aren't yet sure if this change is actually causing the disease. Additionally, a previous muscle biopsy would need to have shown some muscle fibres that weren't working properly, and these biopsy samples must still be available for the researchers to study.

However, some people cannot take part. This includes anyone who doesn't want to sign the consent form, pregnant or breastfeeding women, or adults who have a legal guardian. Also, you cannot be living in a healthcare or social care facility primarily for reasons other than taking part in research.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

I have been seen at a specialist Mitochondrial Disease Centre.
My doctors suspect I might have a mitochondrial disease.
I have had a genetic test that found an unclear change in my mitochondrial DNA.
I have had a muscle biopsy that showed some muscle fibres weren't working properly.
I am able and willing to sign a consent form for research.

Answer every question to see your result.

What does participation involve?

Taking part in this study would involve providing additional samples like blood, urine, or cheek swabs. The researchers would also use existing muscle biopsy samples that were taken as part of your previous medical care. There are no new procedures or medications involved solely for this study. The study aims to look at your existing samples using the new testing methods. While the initial phase might involve a small number of participants to validate the method, if it's successful, it could be used for up to four new patients from the Mitochondrial Diseases Reference Center. The total duration of your involvement would depend on the collection of these samples and the review of your existing medical information.

Potential risks and benefits

Participating in this study comes with the potential benefit of helping to develop a new, more efficient diagnostic tool for mitochondrial diseases. If successful, this could lead to quicker and more accurate diagnoses for many patients in the future, reducing the long wait times currently experienced. For you personally, there's no direct medical benefit as the study focuses on developing a new diagnostic method, not providing treatment. The risks are minimal, mainly related to the collection of blood, urine, and cheek swab samples, which are routine medical procedures with very low risk. Importantly, you are always free to change your mind and withdraw from the study at any time without it affecting your medical care.

Locations (3)

CHU de Nice - Service de Génétique Médicale
Verified postcode
Nice, France
Groupement Hospitalier Est Hospices civils de Lyon - Service de génétique médicale
Verified postcode
Bron, France
Hôpital Gui de Chauliac - Service de Neurologie
Verified postcode
Montpellier, France

Common questions

What is a mitochondrial disease?

Mitochondrial diseases are conditions where the tiny 'powerhouses' (mitochondria) inside your cells don't work properly, affecting how your body makes energy.

What does 'mtDNA' mean?

mtDNA stands for mitochondrial DNA. It's the genetic material found inside your mitochondria, separate from the DNA in the main part of your cells.

What is 'digital PCR'?

Digital PCR is a new, very precise laboratory technique that can count very small amounts of specific DNA, like distinguishing between normal and faulty mtDNA.

Will I get any treatment from this study?

No, this study is about developing a better diagnostic test, not providing treatment. It aims to help future patients get a diagnosis more quickly.

Will I have to have a new muscle biopsy?

No, this study will use muscle biopsy samples that have already been collected as part of your previous medical care.

How to find out more

Cécile Rouzier, MD-PhD

rouzier.c@chu-nice.fr +33 (0)4 92 03 62 43 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.