Идёт набор NCT06324136

Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases

Без фазы С лечением Chronic Kidney Diseases

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Implementation of the diagnostic algorithm.
Кому может быть актуально: Состояния в реестре: Chronic Kidney Diseases. Базовые параметры: 0 лет — 70 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Италия
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

Chronic kidney disease (CKD) affects about 10% of the world population, with high morbidity and mortality. Genetic kidney diseases are increasingly recognized across all age groups and represent over 20% of all the causes of CKD. Accurate diagnosis allows necessary and unnecessary diagnostic procedures to be defined, avoids unnecessary treatments, improves prognosis prediction, identifies other family members for genetic counseling, and defines risks for living donor kidney transplantation. The research group coordinated by the Principal Investigator has recently developed an algorithm for the genetic diagnosis in pediatric and adult patients with CKD. The application of this personalized diagnostic algorithm on a local study led to a global diagnostic yield of 70%, suggesting that this strategy has the potential to substantially improve the diagnostic approach to patients with rare kidney disorders. The aim of this study is to validate and implement these results by extending its application in a multicentric study involving nephrology units that are referral centers for rare kidney diseases at national level.

Вмешательства

Диагностический тест Implementation of the diagnostic algorithm
Patients will be selected based on specific clinical criteria and referred to the tertiary center for genetic testing. All selected patients will undergo genetic testing by whole-exome sequencing (WES), followed by in silico analysis for an extended panel of genes associated with kidney diseases. The results of genetic testing will be evaluated by a multidisciplinary team of experts to establish conclusive diagnosis.

Первичные конечные точки

Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases [Срок оценки: From enrollment of the first patient until the end of the study (up to 24 months)]

Вторичные конечные точки (3)

Analysis of the functional role of variant of unknown clinical significance (VUS) [Срок оценки: Form enrollment until the last follow up visit (up to 12 months)]
Identification of immunological and/or structural factors in genetic and nongenetic forms. [Срок оценки: Form enrollment until the last follow up visit (up to 12 months)]
Cost-effectiveness of the diagnostic algorithm. [Срок оценки: From enrollment of the last patient until the end of the study (up to 24 months)]

Критерии участия

Критерии включения

proteinuria and/or hematuria in the absence of immune deposits on renal biopsy or immune-mediated glomerulopathy resistant to treatment (e.g., steroids, immunosuppressive drugs);
family history of kidney diseases and/or consanguinity;
extrarenal involvement;
ultrasound evidence of at least two cysts in each kidney or hyperechogenic kidneys or nephrocalcinosis;
persistent metabolic abnormalities (metabolic acidosis or alkalosis without kidney function impairment; calcium phosphate metabolism abnormalities) after exclusion of secondary causes;
availability of clinical information.
signed informed consent form