Enamel Renal SyndromeFAM-CalNCT07285421
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
A study testing urinary proteome, urinary metabolome and Evaluation of plasma mineralization factors in people with Enamel Renal Syndrome, run by Assistance Publique - Hôpitaux de Paris at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Enamel Renal Syndrome
- What is being tested?
- urinary proteome, urinary metabolome and Evaluation of plasma mineralization factors
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 2 sitesFrance
- Study dates
- 1 Jan 2026to 30 Oct 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites
HEGP - clinical investigation center
Paris, 75015
Marine Livrozet, 0156095854, marine.livrozet@aphp.fr
Marine Livrozet
HEGP - physiology department
Paris, 75015
Elise Bouderlique, 0156092866 ext. +33, elise.bouderlique@aphp.fr
Elise Bouderlique
About this study
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.
Read more
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
- Being tested
- urinary proteome, urinary metabolome, Evaluation of plasma mineralization factors, Renal ultrasound, dental panoramic x-ray
- Keywords
- FAM20A, enamel renal syndrome
- Medical subject headings
- Amelogenesis imperfecta nephrocalcinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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
Also called Propensity score, Osteoprotegerin, dp-uc MGP, Fetuin A
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)
| Study group | Role | What they receive |
|---|---|---|
| Healthy volunteers | Other | 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. Receives: 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 |
| Enamel Renal Syndrome Patient | Experimental | The population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation. Receives: Diagnostic Test: urinary proteome; Diagnostic Test: urinary metabolome; Diagnostic Test: Evaluation of plasma mineralization factors |
What is being measured
The primary outcome is the main question the study is designed to answer.
Glomerular filtration rate
Glomerular filtration rate measurement by measure of renal 99mTc-DTPA clearance
Measured: Up to 18 months
Secondary outcomes (10)
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
Measured: Up to 18 months
Maximal urine osmolality
Evaluation of water regulation by water deprivation test, urine collection after deprivation.
Measured: 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.
Measured: 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.
Measured: Up to 18 months
Level of Osteoprotegerin
Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization.
Measured: Up to 18 months
Propensity score
Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization.
Measured: Up to 18 months
Ammonium chloride urine flow
Urine collection to evaluate the acid regulation after oral ammonium chloride load test.
Measured: Up to 18 months
calciuria rate
Urine collection in order to evaluate calcium regulation.
Measured: Up to 18 months
Ratio TmPi/DFG
Blood and urine collection in order to evaluate phosphate regulation
Measured: Up to 18 months
Calcium score
Thoracic, abdominal and pelvic scan perform in order to evaluate vascular calcium content.
Measured: Up to 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Dec 2025
- Study start1 Jan 2026 (estimated)
- Primary completion30 Oct 2029 (estimated)
- Study completion30 Oct 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Enamel Renal SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Fondation Université de Paris, Université de Liège, Institut Necker Enfants Malades
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07285421
- Sponsor's protocol ID
- APHP240692
- Other IDs
- 2024-A02589-38, 24.05810.000413
- Acronym
- FAM-Cal
- Status last verified
- Dec 2025
- First submitted
- 28 May 2025
- Last updated
- 16 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 16 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT07285421
- Acronym / sponsor ID
- FAM-Cal / APHP240692
- Conditions
- Enamel Renal Syndrome
- Keywords
- FAM20A, enamel renal syndrome
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Fondation Université de Paris, Université de Liège, Institut Necker Enfants Malades
- Study start
- 1 Jan 2026 (estimated)
- Primary completion
- 30 Oct 2029 (estimated)
- Study completion
- 30 Oct 2029 (estimated)
- First posted
- 16 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy volunteers | Other | 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 biologyThe 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. |
| Enamel Renal Syndrome Patient | Experimental | Diagnostic Test: urinary proteome, Diagnostic Test: urinary metabolome, Diagnostic Test: Evaluation of plasma mineralization factorsThe population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation. |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (7 listed)
- Pregnancy
- Breast-feeding
- Simultaneous participation in a therapeutic trial
- Patient under guardianship or curatorship
- Patient under court protection or family guardianship
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| urinary proteomeVolume 2 ml, with protease inhibitor made one time for each arm of the protocol | Diagnostic test | Enamel Renal Syndrome Patient, Healthy volunteers |
| urinary metabolomeSample collected once in the protocol for each arm. | Diagnostic test | Enamel Renal Syndrome Patient, Healthy volunteers |
| Evaluation of plasma mineralization factorsAlso: Propensity score, Osteoprotegerin, dp-uc MGP, Fetuin AComplementary plasma analysis during another blood sample collection for both arms | Diagnostic test | Enamel Renal Syndrome Patient, Healthy volunteers |
| Renal ultrasoundVerification of normal renal morphology, absence of nephrocalcinosis | Diagnostic test | Healthy volunteers |
| dental panoramic x-rayVerification of normal dentition | Radiation | Healthy volunteers |
| Blood and urine minimal biologyFasting 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) | Biological | Healthy volunteers |
Primary outcome
Glomerular filtration rate
Time frame: Up to 18 months
Glomerular filtration rate measurement by measure of renal 99mTc-DTPA clearance
10 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Dec 2025.
- Individual participant dataSharing planned: 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing urinary proteome, urinary metabolome and Evaluation of plasma mineralization factors in people with Enamel Renal Syndrome, run by Assistance Publique - Hôpitaux de Paris at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 16 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Cléo Bourgeois (0156095638 ext. +33, cleo.bourgeois@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Glomerular filtration rate (time frame: Up to 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Dec 2025.