A Study to Characterize the Genetic, Biomarker, and Clinical Profile of Patients With Focal Segmental Glomerulosclerosis (FSGS), Treatment-Resistant Minimal Change Disease (TR-MCD), and Diabetic Nephropathy (DN)
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 20
- 试验地点
- 18
- 主要终点
- Change in Urine Biomarker: Synaptopodin
研究概览
简要总结
This is a study with 2 parts. Part 1 comprises a visit to collect biological samples necessary for the molecular characterization of chronic kidney disease. Part 2 comprises an observational period of 5 visits over a period up to 8 weeks. During Part 2, baseline tests will be conducted, and urine will be collected approximately every 2 weeks for 8 weeks. Patients may participate in Part 1, Part 2, or both, and will be followed for up to 1 year consisting of data collection from the patient's medical records and home collection of urine samples every 4 months.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •For FSGS/TR-MCD patients :
- •Competent and willing to provide informed consent and adhere to all study assessments and restrictions.
- •Male or female ≥ 18 years of age with FSGS or TR-MCD at the time of providing written informed consent.
- •Diagnosis of FSGS or TR-MCD, based on either biopsy or genetic testing.
- •Urinary protein to creatinine ratio (UPCR) ≥ 1.0 g/g.
- •Estimated glomerular filtration rate (eGFR) ≥ 45 mL/min/1.73 m
- •For DN patients:
- •Competent and willing to provide informed consent and adhere to all study assessments and restrictions.
- •Male or female ≥ 18 years of age with DN at the time of providing written informed consent.
- •Diagnosis of type 2 diabetes
- •Urinary albumin to creatinine ratio (UACR) ≥ 150 mg/g.
- •Estimated glomerular filtration rate (eGFR) ≥ 45 mL/min/1.73 m2.
排除标准
- •For FSGS/TR-MCD patients:
- •Evidence of another kidney disease or kidney disease secondary to an infectious process.
- •History of human immunodeficiency virus (HIV), hepatitis B, or hepatitis C. Patients whose results are compatible with prior immunization or treatment may be included.
- •Body mass index (BMI) > 42 kg/m
- •Significant history or evidence of clinically significant disorder, condition, current illness, or disease that, in the opinion of the Investigator, would pose a risk to patient safety or interfere with the study evaluation, procedures, or completion (eg, severe cardiac disease, cardiac conduction defect, or severe or chronic hepatobiliary disease).
- •History of malignancy not in remission within the last 5 years other than adequately treated basal cell or squamous cell skin cancer or cervical carcinoma in situ.
- •History of any organ or bone marrow transplant, including kidney grafts.
- •History of alcoholism or drug/chemical abuse within 12 months.
- •Preplanned surgery or procedures that would interfere with the conduct of the study.
- •For DN patients:
- •Evidence of another kidney disease or kidney disease secondary to an infectious process.
- •History of HIV, hepatitis B, or hepatitis C. Patients whose results are compatible with prior immunization or treatment may be included.
- •BMI > 42 kg/m
- •Significant history or evidence of clinically significant disorder, condition, current illness, or disease that, in the opinion of the Investigator, would pose a risk to patient safety or interfere with the study evaluation, procedures, or completion (eg, severe cardiac disease, cardiac conduction defect, or severe or chronic hepatobiliary disease).
- •History of malignancy not in remission within the last 5 years other than adequately treated basal cell or squamous cell skin cancer or cervical carcinoma in situ.
- •History of any organ or bone marrow transplant, including kidney grafts.
- •History of alcoholism or drug/chemical abuse within 12 months.
- •Preplanned surgery or procedures that would interfere with the conduct of the study.
- •Renal disease that requires immunosuppressive therapy (currently, or in the past).
结局指标
主要结局
Change in Urine Biomarker: Synaptopodin
时间窗: Approximately 1 year
Number of patients with genetic variants predicted to be associated with chronic kidney disease and functional consequence
时间窗: Baseline/Biomarker collection visit
DNA analysis of blood sample
Change from Baseline Patient-reported Assessment of Health Status
时间窗: Approximately 8 weeks
Patients will assess health status using the 36-Item Short Form Health Survey (SF-36)
Change in Urine Protein-to-Creatinine Ratio (UPCR)
时间窗: Approximately 1 year
Estimated Glomerular Filtration Rate (eGFR)
时间窗: Baseline/Biomarker collection visit
Change in Urine Biomarker: Rac1
时间窗: Approximately 1 year
Change in Urine Biomarker: Other Exploratory
时间窗: Approximately 1 year
Change from Baseline Patient-reported Assessment of Fatigue
时间窗: Approximately 8 weeks
Patients will assess the symptom of fatigue utilizing the Modified Fatigue Impact Scale
Incidence of Untoward Medical Occurrences
时间窗: Approximately 1 year
Incidence of untoward medical occurrences that result in death; are life threatening; require inpatient hospitalization or prolongation of existing hospitalization; result in persistent or significant disability/incapacity; results in a congenital anomaly/birth defect; or result in an important medical event.
Change in Urine Biomarker: Urea
时间窗: Approximately 1 year
Gene expression profile and phenotype of inducible pluripotent stem cell (iPSC)-generated organoids
时间窗: Baseline/Biomarker collection visit
Generation of iPSC from whole blood sample
Change from Baseline Patient-reported Assessment of FSGS Symptoms
时间窗: Approximately 8 weeks
FSGS/TR-MCD patients will assess disease symptomatology utilizing the FSGS Symptom Diary and FSGS Symptom Impact Questionnaire
Change in Urine Biomarker: Podocin
时间窗: Approximately 1 year
Change in Serum/Plasma Biomarker: Other Exploratory
时间窗: Approximately 8 weeks
Change from Baseline Clinician-reported Assessment of Edema
时间窗: Approximately 8 weeks
Clinicians will assess edema in FSGS/TR-MCD patients using a standardized measurement of edema in FSGS/TR-MCD patients
Change in Urine Albumin-to-Creatinine Ratio (UACR)
时间窗: Approximately 1 year
Change in Estimated Glomerular Filtration Rate (eGFR)
时间窗: Approximately 8 weeks
Change in Urine Biomarker: Nephrin
时间窗: Approximately 1 year
% of Patients with Change in Treatment
时间窗: Approximately 1 year
Change in treatment as indicated by patient medical record
次要结局
未报告次要终点