RecruitingOBSERVATIONAL

Mitochondrial Disease-associated ImmunoDeficiencies

Mitochondrial diseases are rare conditions that affect how the body's cells produce energy, which can impact many different organs. This study aims to understand how these diseases affect the body's immune system, which is your natural defence against infections and illnesses. We know that people with mitochondrial diseases sometimes get more infections, but we don't fully understand why. Researchers think that changes in how mitochondria work might affect how immune cells do their job. By studying the immune systems of people with mitochondrial diseases, we hope to find out more about how these conditions develop, identify ways to predict how they might progress, and discover new treatments to improve people's health.

At a glance

Status

Recruiting

Sponsor

University Hospital, Bordeaux

Enrolment target

Start

30 Jan 2024

Estimated completion

01 Jan 2028

Mitochondrial Disorders

What is this study about?

Mitochondrial diseases are a group of health problems that happen when the tiny 'powerhouses' inside our cells, called mitochondria, don't work properly. These mitochondria are responsible for making the energy our bodies need to function. When they don't work well, it can affect almost any part of the body, from the brain and muscles to the heart. Symptoms can vary a lot from person to person and often appear gradually over time, making these conditions quite complex to understand and manage.

We know that people with mitochondrial diseases sometimes seem to get more infections, but exactly why this happens isn't clear yet. Our immune system is what protects us from germs and illness. Recent research in lab settings has shown that healthy mitochondria are very important for immune cells to work correctly and fight off invaders. This study will look closely at this connection in people with mitochondrial diseases.

By studying blood samples from patients, we hope to identify exactly how their immune systems are affected. This information could be really important. It might help doctors diagnose these conditions earlier or understand how a person's disease might progress. Ultimately, a better understanding of the immune system's role could open the door to developing new treatments to help people with mitochondrial diseases live healthier lives and reduce the impact of infections.

Key takeaways

This study explores the link between mitochondrial diseases and the immune system.
It aims to understand why people with these conditions might get more infections.
Participation involves providing blood samples and health information.
The findings could lead to better diagnosis and new treatments.
Healthy volunteers are also needed as 'controls' for comparison.

Who may be eligible?

To take part in this study, you would need to be at least 6 years old and weigh more than 30kg (around 4 stone 10 pounds). You must have a confirmed mitochondrial disease where the specific genetic change causing it has been identified. If you're under 18 or an adult under guardianship, your parents or legal representative would need to give permission, and you would also need to agree to take part. For adults, you would give your own permission.

We are also looking for healthy volunteers, called 'controls', to compare with the patients. If you're a control, you'd need to be roughly the same age and sex as one of the patients. You shouldn't have a mitochondrial disease yourself, and you'd need to give your permission to take part.

There are also some reasons why you wouldn't be able to join. These include if you are pregnant or breastfeeding, if you don't wish to take part, or if the specific genetic cause of your mitochondrial disease hasn't been clearly identified.

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.

Are you at least 6 years old and weigh more than 30kg?
Do you have a genetically confirmed mitochondrial disease?
Are you willing to provide informed consent (or have your parent/guardian provide it)?
Are you NOT pregnant or breastfeeding?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would visit either Bordeaux University Hospital or Toulouse University Hospital. During your visit, information about your usual health and disease activity would be collected. You would also have blood samples taken. These blood samples will be used to look at different parts of your immune system and how your immune cells are working. The study does not involve taking any new medications or treatments. The blood samples will help researchers understand more about how mitochondrial diseases affect the immune system. We don't have information on the total number of visits or the overall duration of the study described here.

Potential risks and benefits

Taking part in this study helps researchers understand more about mitochondrial diseases and how they affect the immune system, which could lead to better treatments in the future. There are no direct medical benefits to you from participating. The main risk involves having blood samples taken, which might cause some minor discomfort or bruising. You are free to withdraw from the study at any time without giving a reason, and this will not affect your usual care.

Locations (2)

Chu Bordeaux
Verified postcode
Bordeaux, France· Recruiting
Hopital Toulouse
Verified postcode
Toulouse, France· Not yet recruiting

Common questions

What is a mitochondrial disease?

It's a health condition where the tiny 'powerhouses' in your cells don't work properly, leading to a lack of energy that can affect many parts of your body.

Why is this study looking at my immune system?

Researchers want to understand why people with mitochondrial diseases sometimes get more infections and how their body's natural defence system might be working differently.

Will I take new medication if I join?

No, this study does not involve taking any new medications or treatments. It focuses on understanding your immune system through blood samples.

What are 'control' participants?

Control participants are healthy volunteers, similar in age and sex to the patients, who help researchers compare findings and understand what is different in people with mitochondrial diseases.

Can I stop participating if I change my mind?

Yes, you can choose to leave the study at any time, for any reason, and it won't affect your medical care.

How to find out more

Aurélien TRIMOUILLE, MD

aurelien.trimouille@chu-bordeaux.fr +335 57 82 10 49 Official trial record

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