RecruitingOBSERVATIONAL

CYSTEA-BONE Clinical Study

This study is for people with a rare inherited kidney condition called nephropathic cystinosis (NC). NC can cause kidney damage and, later in life, bone problems. Most people with NC take a medicine called cysteamine. Researchers want to understand why bone problems happen in NC patients, as this can affect their quality of life. This study will focus on how cysteamine affects bone cells and if different genetic types of NC lead to different bone issues. By studying blood samples, the team hopes to learn more about the link between cysteamine, genes, and bone health in people with NC.

At a glance

Status

Recruiting

Sponsor

Hospices Civils de Lyon

Enrolment target

Start

05 Apr 2019

Estimated completion

05 Oct 2026

Nephropathic Cystinosis

What is this study about?

Nephropathic cystinosis (NC) is a rare condition that means the body can't properly get rid of a substance called cystine. This builds up in different parts of the body, including the kidneys, which can lead to serious health problems. Most people with NC take a special medicine called cysteamine to help manage the condition.

Recently, doctors have noticed that some young people and adults with NC also develop bone problems. These bone issues can be quite serious and really affect a person's daily life. We don't fully understand why these bone problems happen, but there are a few ideas. It could be linked to the cysteamine medicine itself, or it might be directly related to the genetic changes that cause NC.

Because bone problems can have such a big impact, this important study aims to find out more. Researchers want to see how cysteamine affects cells that are involved in making and breaking down bone. They also want to understand if the specific genetic changes a person has for NC influence their bone health. The goal is to learn how to better protect the bones of people living with NC.

Key takeaways

This study focuses on bone health in people with nephropathic cystinosis.
It aims to understand why bone problems occur in some patients.
Researchers will look at how cysteamine medicine affects bone cells.
The study also explores the role of genes in bone health for people with the condition.
Participation involves providing blood samples.
It helps contribute to a better understanding of the condition for future care.

Who may be eligible?

To be part of this study, you need to have a confirmed diagnosis of nephropathic cystinosis. This diagnosis is usually made based on your medical signs, tests that check cystine levels in your white blood cells, or by checking your genes. You also need to be currently taking cysteamine medicine by mouth. The study is open to both males and females.

You must be at least 2 years old to take part. If you are under 18, your parents or legal guardian would need to agree to your participation. They would confirm that they understand what's involved and give their permission for you to join.

The main reason someone might not be able to join is if the study doctors believe they wouldn't be able to follow the study instructions properly. This is to make sure the study gathers useful and reliable information.

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.

Do I have a confirmed diagnosis of nephropathic cystinosis?
Am I currently taking cysteamine by mouth?
Am I at least 2 years old?
Am I willing and able to follow study instructions?

Answer every question to see your result.

What does participation involve?

This study involves providing blood samples. The exact number of samples or visits isn't detailed, but typically, this would involve attending a clinic for a blood draw. You would continue to take your regular cysteamine medication as prescribed by your doctor. There are no new medications given as part of this study.

The overall length of your participation is not specified, but blood sampling studies are usually short-term, perhaps involving one or a few visits. There wouldn't be a need for long-term follow-up specifically for this study, beyond your usual medical care.

Potential risks and benefits

Participating in this study might help doctors better understand bone health in people with nephropathic cystinosis, potentially leading to improved care in the future. The main risk involved is the discomfort of blood sampling, which can include a temporary bruise or mild soreness at the needle site. You always have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (13)

CHU de Besançon
Verified postcode
Besançon, France· Not yet recruiting
CHU Bordeaux - Hôpital Pellegrin tripode
Verified postcode
Bordeaux, France· Recruiting
Hôpital Femme Mère Enfant
Verified postcode
Bron, France· Recruiting
Hôpital Jeanne de Flandre
Verified postcode
Lille, France· Recruiting
Hopital Edouard Herriot
Verified postcode
Lyon, France· Recruiting
AP-HM - Timone Enfants
Verified postcode
Marseille, France· Not yet recruiting
CHU Paris - Hôpital Robert Debré
Verified postcode
Paris, France· Recruiting
CHU Paris - Hôpital Necker-Enfants Malades
Verified postcode
Paris, France· Recruiting
Hôpital des Enfants
Verified postcode
Toulouse, France· Not yet recruiting
CHRU Nancy - Hôpital Brabois Enfants
Verified postcode
Vandœuvre-lès-Nancy, France· Recruiting
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
Verified postcode
Hanover, Germany· Not yet recruiting
IRCCS Ospedale Pediatrico Bambino Gesù
Verified postcode
Roma, Italy· Not yet recruiting

Common questions

What is nephropathic cystinosis?

It's a rare inherited condition where a substance called cystine builds up in the body, particularly affecting the kidneys, but can also impact other organs like bones.

What is cysteamine?

Cysteamine is a medicine commonly prescribed to people with nephropathic cystinosis to help lower the amount of cystine in their body.

Why are you studying bones?

Some people with nephropathic cystinosis develop bone problems, and this study aims to understand why this happens and how it might be connected to their medicine or genes.

Will I have to stop taking my cysteamine medication?

No, you will continue to take your regular cysteamine medication as prescribed by your doctor throughout the study.

Is this study giving new treatments?

No, this study is about understanding the condition and the effects of current treatments, not testing new medications.

How to find out more

Justine BACCHETTA, MD PhD

justine.bacchetta@chu-lyon.fr 04 27 85 61 30 Official trial record

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