Not yet recruitingNAINTERVENTIONAL

Cystinosis and Mitochondrial Metabolism

Cystinosis is a rare inherited condition where a substance called cystine builds up in the body's cells. This build-up causes problems, especially in the kidneys, but can also affect other parts of the body like bones. People with Cystinosis often take medicine called cysteamine to help remove the cystine. While this medicine has greatly helped people live longer, new problems, like brittle bones (Cystinosis Metabolic Bone Disease), have emerged. This study aims to understand why these bone problems happen and why people with Cystinosis might show signs of premature aging. Researchers are exploring how the body’s energy system, particularly structures called mitochondria, might be involved to find new ways to help patients.

At a glance

Status

Not yet recruiting

Phase

Sponsor

Hospices Civils de Lyon

Enrolment target

Start

01 Jan 2026

Estimated completion

01 Jan 2028

Cystinosis Native Kidney

What is this study about?

Cystinosis is a rare condition that you are born with, where a substance called cystine builds up in cells throughout your body. Imagine your cells are like tiny houses, and cystine is like rubbish that needs to be taken out. In Cystinosis, the 'rubbish removal system' doesn't work properly, so cystine piles up. This build-up harms the cells, especially in the kidneys, leading to serious problems quite early in life. It can also affect other parts of the body, including the eyes and hormone glands.

For many years, a medicine called cysteamine has been used to treat Cystinosis. This medicine helps to clear out the excess cystine, and it has made a huge difference to how long people with the condition live. However, because people are now living longer, doctors are noticing new problems that weren't common before. One such problem is 'Cystinosis Metabolic Bone Disease' (CMBD), which causes weak or damaged bones. It’s thought that bones in people with Cystinosis might age faster than usual, even in children and young adults.

This study wants to find out more about why these bone problems happen and why other body parts might show signs of aging too, beyond what we expect from kidney disease. The researchers believe that problems with how our bodies create and use energy, specifically in tiny cell powerhouses called mitochondria, might be important. By understanding these energy issues, they hope to discover new and better ways to treat bone complications and improve the overall health and quality of life for people living with Cystinosis.

Key takeaways

Cystinosis is a rare genetic condition affecting multiple organs, including kidneys and bones.
This study investigates why people with Cystinosis may experience bone problems and premature aging.
Researchers are exploring the role of the body's energy system (mitochondria) in these complications.
The goal is to find new ways to treat bone issues and improve quality of life.
Participants must have genetically confirmed Cystinosis, be 2 years or older, and have native kidneys.

Who may be eligible?

This study is looking for people who have been diagnosed with Cystinosis through genetic testing. Both men and women, adults and children aged 2 years and older, can take part. You must still have your original kidneys (meaning you haven't had a kidney transplant) and be managing your condition with usual treatments.

You should also be taking the oral cysteamine medication for your Cystinosis. It's important that you or your legal guardian are able to understand and sign a consent form, and that you have social security coverage in the UK.

People who can't take part include those who have had a kidney transplant or are on dialysis, pregnant or breastfeeding women, or anyone who would find it difficult to follow the study's instructions. If you're unsure, it's always best to discuss it with your doctor.

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 Cystinosis confirmed by genetic testing.
I am at least 2 years old (or my child is).
I still have my own kidneys and am not on dialysis or had a transplant.
I am currently taking oral cysteamine treatment.
I have social security coverage.

Answer every question to see your result.

What does participation involve?

Please note: This study description does not provide details on specific visits, assessments, medication, or duration, as it was not included in the original brief summary. If this information were available, it would typically outline:

* **Visits:** How many times you'd need to visit the clinic, and what would happen during each visit (e.g., blood tests, scans, physical exams). * **Assessments:** What kind of tests you would undergo, such as blood tests, urine tests, genetic tests, bone density scans, or other examinations related to energy metabolism. * **Medication:** If any new or different medications would be given, or if your current medication would be adjusted (though it often states you should continue your current treatment). * **Follow-up:** How long the study would track your health after any interventions. * **Total Duration:** The total length of time you would be involved in the study.

Potential risks and benefits

Taking part in this study may offer the benefit of contributing valuable information that could lead to better treatments for Cystinosis-related bone problems and premature aging in the future. While the brief summary provided does not detail specific risks, all studies carry potential risks, which could include discomfort from blood tests, the time commitment involved, or any side effects if new treatments were being tested (though this study appears observational). You will have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (9)

Service de néphrologie pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon
Verified postcode
Bron, France
Service de Néphrologie pédiatrique, Hôpital Jeanne de Flandre
Verified postcode
Lille, France
Service de néphrologie et exploration fonctionnelle rénale, Hôpital Edouard Herriot, Hospices Civils de Lyon
Verified postcode
Lyon, France
Service de Néphrologie pédiatrique, Hôpital de la Timone
Verified postcode
Marseille, France
Service de Néphologie et endocrinologie pédiatrique, Hôpital Arnaud de Villeneuve
Verified postcode
Montpellier, France
Service de Néphrologie pédiatrique, Hôpital Necker-Enfants Malades
Verified postcode
Paris, France
Service de Néphrologie-transplantation rénale adultes, Hôpital Necker-Enfants Malades
Verified postcode
Paris, France
Service de Néphrologie pédiatrique, Hôpital Robert Debré
Verified postcode
Paris, France
Service de Néphrologie-Dialyse-Transplantation pédiatrique, Hôpital d'enfants Brabois
Verified postcode
Vandœuvre-lès-Nancy, France

Common questions

What is Cystinosis?

Cystinosis is a rare genetic condition where a substance called cystine builds up in your body's cells, causing damage, especially to the kidneys and bones.

What is 'premature aging' in Cystinosis?

This refers to some body parts, like bones, showing signs of aging earlier than expected in people with Cystinosis, even at a young age.

What are mitochondria?

Mitochondria are tiny parts inside your cells that act like power generators, creating the energy your body needs to function.

Will I receive new medication in this study?

The information provided suggests this study is about understanding the disease better, not necessarily testing new medicines at this stage. You would continue your usual cysteamine treatment.

Do I have to do anything special before joining?

Yes, you or your legal guardian will need to read and sign a consent form, making sure you fully understand what the study involves.

How to find out more

Justine BACCHETTA, MD

justine.bacchetta@chu-lyon.fr 4 27 85 61 30 Official trial record

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