Phosphorus-31 Imaging to Explore Phosphate Diabetes in XLH

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This interventional study uses phosphorus-31 magnetic resonance spectroscopy to measure intra-muscular ATP and phosphate values in individuals with phosphate diabetes, including those with XLH, and in pediatric controls. Eligible participants are at least 10 years old and have confirmed phosphate diabetes or are healthy controls without kidney disease or muscle abnormalities. The goal is to understand metabolic differences related to phosphate handling and energy metabolism in affected individuals. All procedures are conducted at two Lyon hospitals under pediatric nephrology and related services. The study builds on prior work showing metabolic alterations in phosphate-wasting conditions and aims to inform future diagnostic or therapeutic strategies.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Inclusion Criteria for Patients:
* Patient ≥ 10 years old with phosphate diabetes, i.e., genetically confirmed XLH or phosphate diabetes of another origin characterized by hypophosphatemia with a decreased Tm/GFR.
* Patient has given consent to participate in the study.
* Signed consent (by both legal representatives for minor patients).
* Patient regularly followed up within the pediatric nephrology services at the Femme Mère Enfant hospital and the nephrology-functional exploration services at the Edouard Herriot hospital.

Inclusion Criteria for Pediatric Controls:

* Patient aged 10 to 17 years, without chronic kidney disease, without hypophosphatemia, without muscular abnormalities, and without growth disorders.
* Patient has given consent to participate in the study.
* Signed consent (by both legal representatives for minor patients).
* Patient regularly followed up within the pediatric nephrology services at the Femme Mère Enfant hospital.

Inclusion Criteria for Adult Controls:

* Patient without chronic kidney disease, without hypophosphatemia, without muscular abnormalities, and without malnutrition.
* Patient has given consent to participate in the study.
* Signed consent.
* Patient regularly followed up within the renal functional exploration services at the Edouard Herriot hospital.

Exclusion Criteria:

* Pregnant, parturient, or breastfeeding women
* Individuals deprived of liberty by a judicial or administrative decision
* Individuals receiving psychiatric care
* Individuals admitted to a healthcare or social institution for purposes other than research
* Adults under legal protection (guardianship, curators)
* Individuals not affiliated with a social security system or benefiting from a similar scheme
* Subjects participating in another interventional study with an exclusion period still in effect at pre-inclusion
* General contraindications for MRI: wearing a pacemaker/ICD (implantable cardiac device) or mechanical heart valves not MRI-compatible, presence of non-MRI-compatible equipment, presence of metallic objects.

Where it's running

• Hôpital Edouard Herriot, Hospices Civils de Lyon
  Lyon, France Recruiting
• Hôpital femme mère enfant, hospices civils de Lyon
  Bron, France Not yet recruiting

Study contacts

• Study coordinator: Sandrine Lemoine, Pr
• Email: Sandrine.lemoine01@chu-lyon.fr
• Phone: +33 472110252

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.