Phosphorus-31 Spectroscopy in Phosphate Diabetes

Launched by HOSPICES CIVILS DE LYON · Apr 3, 2025

Keywords

ClinConnect Summary

This clinical trial is studying phosphate diabetes, a condition where the body loses too much phosphate through urine, which can lead to bone pain and muscle weakness. The focus is particularly on patients with X-linked hypophosphatemia (XLH), a genetic form of this disease, and aims to measure important substances in the muscles, like ATP (the energy source for cells) and phosphate levels, both at rest and during exercise. Understanding these measurements can help doctors better assess how phosphate diabetes impacts patients' lives and find more effective treatments.

To be eligible for this study, participants need to be at least 10 years old and have phosphate diabetes, confirmed through genetic testing or other medical criteria. Control participants, who do not have phosphate diabetes, can also join if they meet certain health requirements. Those who participate will undergo non-invasive MRI scans that focus specifically on the leg to measure muscle and metabolic activity. It's important to note that the trial is not yet recruiting participants, but it aims to gather valuable information that could improve the quality of life for those affected by phosphate diabetes.

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Eligibility criteria

• 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.