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
NCT ID: NCT07285421
Last Updated: 2025-12-16
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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NOT_YET_RECRUITING
NA
30 participants
INTERVENTIONAL
2026-01-01
2029-10-30
Brief Summary
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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.
Detailed Description
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Conditions
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Study Design
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NON_RANDOMIZED
PARALLEL
OTHER
NONE
Study Groups
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Healthy volunteers
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.
urinary proteome
Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
urinary metabolome
Sample collected once in the protocol for each arm.
Evaluation of plasma mineralization factors
Complementary plasma analysis during another blood sample collection for both arms
Renal ultrasound
Verification of normal renal morphology, absence of nephrocalcinosis
dental panoramic x-ray
Verification of normal dentition
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)
Enamel Renal Syndrome Patient
The population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation.
urinary proteome
Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
urinary metabolome
Sample collected once in the protocol for each arm.
Evaluation of plasma mineralization factors
Complementary plasma analysis during another blood sample collection for both arms
Interventions
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urinary proteome
Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
urinary metabolome
Sample collected once in the protocol for each arm.
Evaluation of plasma mineralization factors
Complementary plasma analysis during another blood sample collection for both arms
Renal ultrasound
Verification of normal renal morphology, absence of nephrocalcinosis
dental panoramic x-ray
Verification of normal dentition
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)
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* 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
* 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
18 Years
90 Years
ALL
Yes
Sponsors
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Fondation Université de Paris
UNKNOWN
Université de Liège
OTHER
Institut Necker Enfants Malades
OTHER
Assistance Publique - Hôpitaux de Paris
OTHER
Responsible Party
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Locations
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HEGP - clinical investigation center
Paris, , France
HEGP - physiology department
Paris, , France
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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2024-A02589-38
Identifier Type: OTHER
Identifier Source: secondary_id
24.05810.000413
Identifier Type: OTHER
Identifier Source: secondary_id
APHP240692
Identifier Type: -
Identifier Source: org_study_id