Not yet recruitingNAINTERVENTIONAL

Phosphorus-31 Spectroscopy in Phosphate Diabetes

This study aims to understand why people with a condition called 'phosphate diabetes' often experience bone pain and muscle tiredness. Phosphate diabetes affects how your body uses phosphate, which is vital for strong bones and muscle energy. This can lead to problems like rickets in children and weakened bones (osteomalacia) in adults, along with muscle fatigue that makes daily activities difficult. Researchers will use special MRI scans to look closely at muscle energy levels in affected individuals, both at rest and during exercise. The goal is to find better ways to objectively measure these muscle issues, as current patient questionnaires don't always capture the full impact. By understanding these physical changes better, the study hopes to pave the way for improved care and a better quality of life for patients.

At a glance

Status

Not yet recruiting

Phase

Sponsor

Hospices Civils de Lyon

Enrolment target

Start

01 May 2025

Estimated completion

01 May 2027

Phosphate Diabetes X-linked Hypophosphatemia

What is this study about?

This study is about a health condition called 'phosphate diabetes.' This isn't like regular diabetes, but it's a problem with how your body handles a mineral called phosphate. Phosphate is super important for building strong bones and for giving your muscles the energy they need to work properly. When your body loses too much phosphate, it can lead to bones becoming weak and painful, and muscles feeling tired easily.

Children with phosphate diabetes might develop a condition called rickets, which can affect their growth and bone shape. Adults might experience bone softening (osteomalacia), weak spots in their bones, and ongoing muscle fatigue. While some forms of phosphate diabetes, like X-linked hypophosphatemia (XLH), have new treatments that have improved life for many, there are other types that aren't as well understood, and the muscle tiredness can still be a big problem for many people.

Doctors know that patients often struggle with muscle tiredness and how it affects their daily lives, but it's hard to measure this impact objectively. This study will use a special, safe type of MRI scan called 31-phosphorus Magnetic Resonance Spectroscopy (31P-MRS) to look inside muscle cells. This scan allows researchers to measure the levels of energy-related chemicals, like ATP and phosphate, in the muscles. They'll do this both while people are resting and when they're doing a little exercise to see if there are differences that explain the muscle weakness. This could help us better understand the condition and find new ways to help patients feel stronger and more energetic.

Key takeaways

This study investigates muscle energy levels in people with 'phosphate diabetes'.
It uses a safe, non-invasive leg MRI scan (31P-MRS) to look at muscles.
The goal is to better understand muscle fatigue and improve patient care.
Participation involves one imaging session, without radiation or injections.
It helps us understand why bones and muscles are affected by phosphate diabetes.
This research hopes to find better ways to measure muscle problems objectively.

Who may be eligible?

To join this study, you must be at least 10 years old and have been diagnosed with 'phosphate diabetes,' either confirmed genetically or by other tests showing that your body is losing too much phosphate through your urine. You should also be someone who regularly visits the pediatric kidney doctors at Femme Mère Enfant hospital or the kidney and functional exploration services at Edouard Herriot hospital.

We are also looking for healthy volunteers, both children and adults, to compare against. Children aged 10-17 should be generally healthy, with no long-term kidney problems, low phosphate levels, muscle issues, or growth problems. Adult volunteers should also be generally healthy, without chronic kidney disease, low phosphate levels, muscle problems, or malnutrition. All participants, or their parents/guardians for those under 18, must give their written consent to take part and must be receiving regular follow-up care at one of the mentioned hospitals.

There are some reasons why you might not be able to join. For example, if you are pregnant, breastfeeding, in prison, or receiving psychiatric care, you wouldn't be eligible. Also, if you have certain metal implants like a pacemaker or some types of heart valves, you cannot have an MRI scan, and therefore couldn't participate in this study.

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 you have a diagnosis of phosphate diabetes?
Are you 10 years old or older?
Are you currently receiving care at Femme Mère Enfant or Edouard Herriot hospital?
Do you have any metal implants that might prevent an MRI scan (like a pacemaker)? (If yes, you may not be able to participate)
Are you able to provide your written consent (or your parent/guardian for minors)?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll have a special medical imaging session. This involves a safe type of MRI scan called 31P-MRS, which focuses on your leg. You won't need to go completely inside the MRI machine like for a full body scan. During the scan, researchers will measure energy levels in your muscles both when your leg is resting and when you do a mild exercise. The whole procedure is non-invasive, meaning no needles for contrast dye, and it doesn't use radiation. This session will involve spending some time at the hospital for these specialized scans. We anticipate that your involvement will be limited to this imaging session and any necessary follow-up appointments with your regular doctors, as part of your ongoing care.

Potential risks and benefits

Taking part in this study may not directly benefit you, but the information we gather could help improve the understanding and care for many others with phosphate diabetes in the future. The main procedure involves an MRI scan, which is generally very safe and doesn't use radiation. There are no known major risks, but some people might find the MRI machine noisy or claustrophobic, although you will only have your leg scanned, not your whole body. You are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (2)

Hôpital femme mère enfant, hospices civils de Lyon
Verified postcode
Bron, France
Hôpital Edouard Herriot, Hospices Civils de Lyon
Verified postcode
Lyon, France

Common questions

What is 'phosphate diabetes'?

It's a condition where your body loses too much phosphate, a mineral important for strong bones and muscle energy, leading to weak bones and muscle tiredness.

What is an MRI scan?

It's a safe medical test that uses strong magnets and radio waves to create detailed pictures inside your body, without using X-rays or radiation.

Will I feel anything different during the scan?

The scan itself is painless, but you might hear some knocking or humming noises. Your leg will be positioned for the scan, and you may be asked to do some simple leg exercises.

Are there any needles or injections involved?

No, this specific type of MRI scan for this study does not require any injections or contrast dyes, and it doesn't involve any radiation.

How long will my visit to the hospital take?

The exact duration will be explained by the study team, but it will involve time for preparation and the scans themselves, which typically take a few hours.

How to find out more

Sandrine Lemoine, Pr

sandrine.lemoine01@chu-lyon.fr +33 472110252 Official trial record

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