💬In plain words
What the trial is, and whether it could suit you
Phosphate diabetes is defined by urinary phosphate wasting due to impaired tubular reabsorption. It can be classified based on either a genetic or acquired origin. Chronic hypophosphatemia causes rickets in children, leading to growth disorders, bone deformities, and bone pain. In adults, it results in osteomalacia, pseudofractures, as well as muscle fatigue and weakness during exertion.
X-linked hypophosphatemia (XLH) is a common cause of hereditary rickets linked to renal phosphate loss due to elevated FGF23 levels, most often caused by mutations in the PHEX (Phosphate Regulating Endopeptidase X-Linked) gene. Clinical trials have already demonstrated significant improvements in the quality of life of patients with XLH following the approval of the anti-FGF23 antibody, Burosumab.
However, there are other causes of phosphate diabetes, such as tumor-induced osteomalacia (TIO), proximal
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
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.
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