NCT07285421

Renal and Vascular Phenotypic Characterization of Patients With Enamel Renal Syndrome Due to a Pathogenic Variant of the FAM20A Gene and Pathophysiological Study of Ectopic Calcifications

• Status: Not Yet Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 30 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years – 90 Years
• Healthy volunteers: Accepted

Summary

In the research, the investigators will characterize the renal and vascular damage and look for factors favoring the formation of calcification induced by enamel renal syndrome. Patients will undergo four investigations, as part of their routine care, to assess their renal impairment. Each investigation will require a day in the Physiology Department of the George Pompidou European Hospital. The 4 tests are designed to * precisely measure your renal filtration capacity, * evaluate your body's calcium and phosphate regulation, * evaluate your capacity to regulate the elimination of water from the body * assess your body's ability to regulate "acid" intake. As part of the research, an additional 20 ml blood sample and a urine sample will be taken during the other samples taken as part of routine care. Healthy volunteers will undergo blood and urine tests, dental X-rays and renal ultrasound. For healthy volunteers, the aim of the dental X-ray and renal ultrasound is to check that there are no dental or renal abnormalities, so as to rule out not only email-rein syndrome, but also any dental or renal abnormalities that might resemble it. The aim of blood and urine sampling is to measure various molecules that promote calcification or inhibit the calcification process, so as to be able to compare results obtained in healthy subjects with those obtained in patients with enamel renal syndrome. Each healthy subject will be selected to be matched by age and sex to each of the patients included in the study.

Conditions

• Enamel Renal Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	urinary proteome	Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
DIAGNOSTIC_TEST	urinary metabolome	Sample collected once in the protocol for each arm.
DIAGNOSTIC_TEST	Evaluation of plasma mineralization factors	Complementary plasma analysis during another blood sample collection for both arms
DIAGNOSTIC_TEST	Renal ultrasound	Verification of normal renal morphology, absence of nephrocalcinosis
RADIATION	dental panoramic x-ray	Verification of normal dentition
BIOLOGICAL	Blood and urine minimal biology	Fasting blood: creatinine, blood ions (Na + K + Cl + CO2 + Proteins), calcium, phosphate, CBC (Complete Blood Count), liver function tests, lipid profile); Morning fasting urine: creatinine, calcium, phosphate, protein, urinalysis (ECBU)

Timeline

• Start date: 2026-01-01
• Primary completion: 2029-10-30
• Completion: 2029-10-30
• First posted: 2025-12-16
• Last updated: 2025-12-16

Locations

2 sites across 1 country: France