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

N/ANot Yet RecruitingNCT07285421

Assistance Publique - Hôpitaux de Paris30 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Enamel Renal Syndrome

Interventions

urinary proteomeDIAGNOSTIC_TEST

Volume 2 ml, with protease inhibitor made one time for each arm of the protocol

urinary metabolomeDIAGNOSTIC_TEST

Sample collected once in the protocol for each arm.

Evaluation of plasma mineralization factorsDIAGNOSTIC_TEST

Complementary plasma analysis during another blood sample collection for both arms

Renal ultrasoundDIAGNOSTIC_TEST

Verification of normal renal morphology, absence of nephrocalcinosis

dental panoramic x-rayRADIATION

Verification of normal dentition

Blood and urine minimal biologyBIOLOGICAL

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)

Eligibility

Sex: ALLMin age: 18 YearsMax age: 90 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Informed patient who does not object to participating in the study * Age ≥ 18 years * Be affiliated to a social security scheme or be a beneficiary of such a scheme * Able to understand the interest and constraints of the study * Suffering from enamel-renal syndrome with a proven pathogenic variant of FAM20A Exclusion Criteria: * Pregnancy * Breast-feeding * Simultaneous participation in a therapeutic trial * Patient under guardianship or curatorship * Patient under court protection or family guardianship * Patient under AME * Enamel-renal syndrome with pathogenic variation in a gene other than FAM20A

Outcomes

Primary Outcomes

Glomerular filtration rate

Glomerular filtration rate measurement by measure of renal 99mTc-DTPA clearance

Time frame: Up to 18 months

Secondary Outcomes

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

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

Overview

Conditions

Interventions

Eligibility

Locations (2)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts