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
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: urinary proteome, urinary metabolome, Evaluation of plasma mineralization factors, Renal ultrasound.
- Who it may be relevant to
- Registry conditions: Enamel Renal Syndrome. Basic parameters: 18 years — 90 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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.
Interventions
- 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)
Primary outcome measures
- Glomerular filtration rate [Time frame: Up to 18 months]
Secondary outcome measures (10)
- Comparison of urine proteome between patients and healthy volunteers [Time frame: Up to 18 months]
- Maximal urine osmolality [Time frame: Up to 18 months]
- Level of dp-uc MGP [Time frame: Up to 18 months]
- Level of Fetuin A [Time frame: Up to 18 months]
- Level of Osteoprotegerin [Time frame: Up to 18 months]
- Propensity score [Time frame: Up to 18 months]
- Ammonium chloride urine flow [Time frame: Up to 18 months]
- calciuria rate [Time frame: Up to 18 months]
- Ratio TmPi/DFG [Time frame: Up to 18 months]
- Calcium score [Time frame: Up to 18 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- Non-randomized
- Model
- Parallel assignment
- Masking
- Open label
- Primary purpose
- Other
Study locations
France · 2 centers
- HEGP - clinical investigation center — Paris
- HEGP - physiology department — Paris
Identifiers
NCT: NCT07285421 · APHP240692 · 2024-A02589-38 · 24.05810.000413