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 (FAM-Cal)

Assistance Publique - Hôpitaux de Paris

Status

Not yet enrolling

Conditions

Enamel Renal Syndrome

Treatments

Biological: Blood and urine minimal biology

Diagnostic Test: Evaluation of plasma mineralization factors

Diagnostic Test: Renal ultrasound

Diagnostic Test: urinary metabolome

Diagnostic Test: urinary proteome

Radiation: dental panoramic x-ray

Study type

Interventional

Funder types

Other

Identifiers

NCT07285421

2024-A02589-38 (Other Identifier)

APHP240692

24.05810.000413 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment

30 estimated patients

Sex

All

Ages

18 to 90 years old

Volunteers

Accepts Healthy Volunteers

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

Trial design

Primary purpose

Other

Allocation

Non-Randomized

Interventional model

Parallel Assignment

Masking

None (Open label)

30 participants in 2 patient groups

Healthy volunteers

Other group

Description:

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.

Treatment: