An interventional study of urinary proteome and urinary metabolome in Enamel Renal Syndrome, sponsored by Assistance Publique - Hôpitaux de Paris. Not yet recruiting at 2 sites in France. Open to participants aged 18 Years to 90 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-12-16.
Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Other
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
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.
Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
The control group will be made up of healthy volunteers, in order to provide a reference population, matched for the analyses carried out as part of the research, i.e. metabolome, proteome and plasma factors of mineralization.
Diagnostic Test: urinary proteome · Diagnostic Test: urinary metabolome · Diagnostic Test: Evaluation of plasma mineralization factors · Diagnostic Test: Renal ultrasound · Radiation: dental panoramic x-ray · Biological: Blood and urine minimal biology
The population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation.
Diagnostic Test: urinary proteome · Diagnostic Test: urinary metabolome · Diagnostic Test: Evaluation of plasma mineralization factors
Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
Sample collected once in the protocol for each arm.
Complementary plasma analysis during another blood sample collection for both arms
Also known as: Propensity score, Osteoprotegerin, dp-uc MGP, Fetuin A
Verification of normal renal morphology, absence of nephrocalcinosis
Verification of normal dentition
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)
Glomerular filtration rate
Glomerular filtration rate measurement by measure of renal 99mTc-DTPA clearance
Time frame: Up to 18 months
Comparison of urine proteome between patients and healthy volunteers
Identification of candidate mechanisms to approach the pathophysiology of ectopic calcifications through the study of the urinary proteome
Time frame: Up to 18 months
Maximal urine osmolality
Evaluation of water regulation by water deprivation test, urine collection after deprivation.
Time frame: Up to 18 months
Level of dp-uc MGP
Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization.
Time frame: Up to 18 months
Level of Fetuin A
Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization.
Time frame: Up to 18 months
Level of Osteoprotegerin
Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization.
Time frame: Up to 18 months
Propensity score
Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization.
Time frame: Up to 18 months
Ammonium chloride urine flow
Urine collection to evaluate the acid regulation after oral ammonium chloride load test.
Time frame: Up to 18 months
calciuria rate
Urine collection in order to evaluate calcium regulation.
Time frame: Up to 18 months
Ratio TmPi/DFG
Blood and urine collection in order to evaluate phosphate regulation
Time frame: Up to 18 months
Calcium score
Thoracic, abdominal and pelvic scan perform in order to evaluate vascular calcium content.
Time frame: Up to 18 months
Plan to share: Yes — The deidentified individual participant data (IPD) that support the results reported in publications may be shared. Additionally, the IPD outlined in the protocol for a planned meta-analysis may also be made available. A data dictionary defining each field will be made available concurrently with the data transmission.
Supporting information: Study protocol, Icf
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in Dec 2025. You cannot join it, but the record below documents what was studied.
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Assistance Publique - Hôpitaux de Paris