RecruitingNAINTERVENTIONAL

Purinergic Compounds in Pseudoxanthoma Elasticum

This study is investigating a rare inherited condition called Pseudoxanthoma Elasticum (PXE). PXE causes elastic tissues in the body, such as those in the skin, eyes, and blood vessels, to gradually harden. This can lead to problems like vision loss, circulation issues, and skin changes. Scientists believe that a lack of a natural chemical called pyrophosphate, which usually stops calcium from building up, plays a key role. While there's no cure yet, ongoing research is exploring new treatments. This particular study is focusing on how other natural chemicals in the body, specifically those related to ATP and adenosine, might affect PXE. By measuring these chemicals, researchers hope to gain a much clearer understanding of how the condition develops and to spot potential new ways to tackle it. Understanding these processes could open doors to more effective treatments in the future.

At a glance

Status

Recruiting

Phase

Sponsor

Centre Hospitalier Universitaire de Nice

Enrolment target

Start

20 Jan 2026

Estimated completion

15 Jan 2029

Pseudoxanthoma Elasticum

What is this study about?

Pseudoxanthoma Elasticum, or PXE for short, is a rare health condition that runs in families. It usually starts when people are young adults and causes the soft, stretchy parts of your body, like your skin, the back of your eyes, and your blood vessels, to gradually become hard and stiff. Over time, this can lead to different health problems, including changes to your vision, difficulty with blood flow, and discomfort in your tendons. We don't have a cure for PXE yet, but doctors and scientists are constantly working on understanding it better and finding new treatments.

At the heart of PXE is a problem with how your body handles calcium. Normally, a natural substance called pyrophosphate (PPi) helps stop calcium from building up where it shouldn't. However, in people with PXE, there's often not enough PPi. This study is taking a closer look at other natural chemicals in your body, like ATP and adenosine, and how they might affect the levels of PPi. It's thought that an imbalance in these chemicals could make the calcium build-up worse.

By carefully measuring these various chemicals, the research team hopes to get a much clearer picture of what's happening inside the body of someone with PXE. This deeper understanding is really important because it could help identify completely new ways to treat the condition. The goal is to move towards therapies that can slow down or even stop the progression of PXE's effects.

Key takeaways

PXE is a rare inherited condition affecting elastic tissues.
The study explores how natural body chemicals like ATP and pyrophosphate relate to PXE.
Understanding these chemical pathways could lead to new treatments.
Participation involves blood tests and a SCANNER procedure.
It's an observational study, aiming to gather knowledge, not directly treat.
Your contribution helps advance research for future individuals with PXE.

Who may be eligible?

To take part in this study, you need to be an adult, aged 18 or over. You also need to be covered by social security – this is a common requirement in research studies to ensure participant welfare. Before you can join, you'll be given detailed information about the study, and if you're happy to proceed, you'll be asked to sign a consent form, showing you understand and agree to take part.

Specific to your health, you must have a diagnosis of PXE that meets certain medical definitions and also have a confirmed genetic change (mutation) in the ABCC6 gene, as this is known to cause PXE. This helps ensure that the study focuses on people with the specific type of PXE being investigated.

There are also some reasons why you might not be able to join. For example, if you are currently taking certain medications like bisphosphonates or blood thinners (vitamin K antagonists), or if you use supplements containing calcium, magnesium, iron, zinc, or phosphates. Additionally, if you're undergoing treatment for cancer, have certain inflammatory diseases, or take medicines that could affect your adenosine levels (such as caffeine, some asthma medicines, or certain heart medicines), you would not be able to participate. This is to make sure the study results are as clear and accurate as possible, without interference from other health conditions or treatments.

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 18 years old or older?
Do you have a confirmed diagnosis of PXE with a specific genetic change?
Are you not currently taking certain medications or supplements (e.g., bisphosphonates, calcium supplements, some heart/asthma medicines)?
Do you not have active cancer, bone conditions (like severe osteoporosis), or inflammatory/autoimmune diseases?
Are you covered by social security and willing to sign a consent form?

Answer every question to see your result.

What does participation involve?

This part of the study involves attending a research centre for specific tests. You would provide several small blood samples, which will be collected using standard methods, inserting a fine needle into a vein. These samples will be used to measure various chemicals in your body, including pyrophosphate, adenosine, and certain enzymes. You would also have a SCANNER procedure, though specific details of what the scanner is for are not provided here. The total duration of your involvement in the study is not detailed, but it's usually a one-off visit for diagnostic studies or a series of visits over a set period for longer trials. You would always be fully informed of the full schedule before agreeing to take part.

Potential risks and benefits

Taking part in research studies offers potential benefits, such as contributing to a better understanding of PXE, which could lead to new treatments for future patients. While there isn't a direct benefit to you personally in this specific study, the information gathered is vital for scientific progress. Potential risks are generally low but include discomfort or bruising from blood draws, and the time commitment required. There might also be very rare risks associated with the SCANNER procedure, which would be fully explained to you. You have the right to withdraw from the study at any time without giving a reason, and this will not affect your routine medical care.

Locations (2)

Angers University hospital
Verified postcode
Angers, France· Not yet recruiting
Nice University hospital
Verified postcode
Nice, France· Recruiting

Common questions

What is PXE?

PXE is a rare condition that causes soft, stretchy body tissues, like skin and blood vessels, to become stiff over time.

Why is this study important for PXE?

This study aims to understand how certain body chemicals are linked to PXE, helping researchers find new ways to treat it.

Who can take part in this study?

Adults (18+) with a confirmed diagnosis of PXE and a specific genetic change can be considered. There are also specific exclusion criteria.

What will I have to do if I join?

You will provide blood samples and have a SCANNER procedure. The researchers will explain all procedures in detail.

Will I get better by joining this study?

This study is focused on gathering information to understand PXE better; it's not designed to directly treat your condition, but it may help future patients.

How to find out more

Georges LEFTHERIOTIS, PUPH

leftheriotis.g@chu-nice.fr 04 92 03 85 48 Official trial record

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