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
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Glomerular filtration rate
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 90 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
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.
干预措施: urinary proteome (Diagnostic Test)
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.
干预措施: urinary metabolome (Diagnostic Test)
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.
干预措施: Evaluation of plasma mineralization factors (Diagnostic Test)
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.
干预措施: Renal ultrasound (Diagnostic Test)
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.
干预措施: dental panoramic x-ray (Radiation)
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.
干预措施: Blood and urine minimal biology (Biological)
Enamel Renal Syndrome Patient
The population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation.
干预措施: urinary proteome (Diagnostic Test)
Enamel Renal Syndrome Patient
The population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation.
干预措施: urinary metabolome (Diagnostic Test)
Enamel Renal Syndrome Patient
The population to be studied is a population of adult patients suffering from enamel renal syndrome with FAM20A mutation.
干预措施: Evaluation of plasma mineralization factors (Diagnostic Test)
结局指标
主要结局
Glomerular filtration rate
时间窗: Up to 18 months
Glomerular filtration rate measurement by measure of renal 99mTc-DTPA clearance
次要结局
- Comparison of urine proteome between patients and healthy volunteers(Up to 18 months)
- Maximal urine osmolality(Up to 18 months)
- Level of dp-uc MGP(Up to 18 months)
- Level of Fetuin A(Up to 18 months)
- Level of Osteoprotegerin(Up to 18 months)
- Propensity score(Up to 18 months)
- calciuria rate(Up to 18 months)
- Ammonium chloride urine flow(Up to 18 months)
- Calcium score(Up to 18 months)
- Ratio TmPi/DFG(Up to 18 months)