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

Обзор

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.

Вмешательства

• Диагностический тест urinary proteome
  Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
• Диагностический тест urinary metabolome
  Sample collected once in the protocol for each arm.
• Диагностический тест Evaluation of plasma mineralization factors
  Complementary plasma analysis during another blood sample collection for both arms
• Диагностический тест Renal ultrasound
  Verification of normal renal morphology, absence of nephrocalcinosis
• Лучевая терапия dental panoramic x-ray
  Verification of normal dentition
• Биопрепарат 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)

Первичные конечные точки

• Glomerular filtration rate [Срок оценки: Up to 18 months]

Вторичные конечные точки (10)

• Comparison of urine proteome between patients and healthy volunteers [Срок оценки: Up to 18 months]
• Maximal urine osmolality [Срок оценки: Up to 18 months]
• Level of dp-uc MGP [Срок оценки: Up to 18 months]
• Level of Fetuin A [Срок оценки: Up to 18 months]
• Level of Osteoprotegerin [Срок оценки: Up to 18 months]
• Propensity score [Срок оценки: Up to 18 months]
• Ammonium chloride urine flow [Срок оценки: Up to 18 months]
• calciuria rate [Срок оценки: Up to 18 months]
• Ratio TmPi/DFG [Срок оценки: Up to 18 months]
• Calcium score [Срок оценки: Up to 18 months]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Распределение

Нерандомизированное

Модель

Параллельные группы

Маскирование

Открытое

Основная цель

Другое

Центры проведения

Франция · 2 центра

• HEGP - clinical investigation center — Paris
• HEGP - physiology department — Paris

Идентификаторы

NCT: NCT07285421 · APHP240692 · 2024-A02589-38 · 24.05810.000413

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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