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Showing 1-20 of 71 trials
NCT07161037
The purpose of the study is to evaluate the effect of VX-407 on height-adjusted total kidney volume (htTKV), safety, tolerability, and pharmacokinetics (PK) of VX-407.
NCT07282821
Autosomal dominant polycystic kidney disease (ADPKD), the most commonly inherited kidney disease, is characterized by the development of cysts in the kidney that impair function. Of those affected, half will progress to end-stage kidney disease by age 60, requiring dialysis or kidney transplant. To date, no effective and safe therapies exist for this deadly disease. Tolvaptan (Tol), the only FDA-approved drug for treatment of ADPKD, has some benefit in slowing kidney disease progression, but Tol causes frequent urination and thirst and also injures the liver in a small number of patients. The investigators' goal, therefore, is to develop new strategies to treat ADPKD that are safe and tolerable. The development of cysts in ADPKD patients results from two main cellular processes. The first is cell growth with an increase in the number of kidney cells that make up the outer surface of the cyst. The second is an increase in fluid secretion into the cysts that develop. The investigators have shown that an enzyme, AMP-activated protein kinase (AMPK), when activated can inhibit both of those processes. Moreover, genetic mutations that cause ADPKD may alter the energy metabolism of the cell, which in turn inhibits AMPK activity. Bempedoic acid (BA), a medication that is FDA-approved for the treatment of individuals with high cholesterol and has a good safety record, activates AMPK. In addition to activating AMPK, BA inhibits a second enzyme called ATP-citrate lyase (ACLY), which is involved in cholesterol synthesis. ACLY has received growing attention as a novel target for cancer treatment. ACLY inhibition blocks increases of cell numbers by inhibiting the lipid synthesis that is required for creation of new cell membranes. This study will test whether targeting these pathways through treatment with BA will help reverse dysfunctional metabolism in individuals with ADPKD and slow disease progression. The investigators will test this using a phase 2 clinical trial in which 120 individuals with rapidly progressive ADPKD and an estimated glomerular filtration rate of 35 or greater will be treated with either BA or placebo (inactive look-alike pill) for two years. Participants on or off a stable dose of Tol will be included in the study. Participants will be recruited from the U. of Vermont, U. of Maryland, and Tufts University, which have active PKD clinics and are recognized by the PKD Foundation as Centers of Excellence. Through follow-up visits and lab work, the investigators will assess the safety and tolerability of BA in the participants as the primary outcomes. The secondary goals are to assess preliminary efficacy and effects of BA on quality of life in study participants. The growth of cysts results in increased volume or size of the kidneys and liver. Total and cyst volumes of the kidney and liver and visceral abdominal fat content via magnetic resonance imaging (MRI) will be measured to gauge the effectiveness of this drug. The investigators also predict that proteins and small molecules involved in regulating cell energy metabolism, inflammation, and injury, as well as proteins directly involved in AMPK and ACLY function, will be altered in ADPKD patients. Levels of these proteins and small molecules may then subsequently change with BA therapy. Exploratory, mechanistic goals of this study are to identify prognostic and predictive urinary biomarkers in study participants. Successful completion of this study would have a significant impact on individuals with ADPKD by laying the groundwork for a new treatment strategy as well as by providing a new way to help guide treatment decisions. In summary, the goals of this phase 2 randomized, double-blind, placebo-controlled clinical trial are to test the safety, tolerability and preliminary efficacy of the drug bempedoic acid, FDA-approved to lower cholesterol, when used in ADPKD patients.
NCT04939935
This study will investigate if a medication (metformin) widely used in the treatment of diabetes could be re-purposed for the treatment of patients with a diagnosis of early stage ADPKD to slow the rate of kidney function decline, reducing morbidity and mortality and improving the quality of life for ADPKD patients.
NCT05996731
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES. * Objective 1: Set up and validate techniques. Set-up and validation of the transcriptome analysis protocol in healthy subjects and in patients with known splicing alterations and/or altered RNA expression. * Objective 2: Diagnostic phase. Study of splicing alterations and RNA levels in cultured fibroblasts obtained from skin biopsies of patients with rare genetic diseases and negative exome. Exploratory goals * Compare the RNA expression profile obtained from skin biopsy-derived fibroblasts with the RNA expression profile from blood. The most relevant results will be validated in qRT-PCR. * To analyze the transcriptional and protein profile heterogeneity in skin-derived fibroblasts in enrolled subjects. To explore the effects of genetic (from WES) and transcriptional (from RNA-seq) alterations in participants' plasma and serum. Healthy controls Five healthy subjects will be recruited from the staff of the Mario Negri Institute for Pharmacological Research. The coded samples will be used to set up the method of isolation and culture of skin fibroblasts and RNA-Seq. Validation group For the set-up and validation of the skin fibroblast isolation and RNA-Seq procedure, ten adult patients with known diagnosis and with alterations in RNA levels and/or splicing will be recruited as positive controls. Patients who meet the requirements described above will be contacted by the doctors of the Daccò Center for an interview explaining the project. Those who agree to participate in the study will be asked to sign the informed consent before proceeding with the experimental part. "Discovery/Exploration" group The exploration cohort will be composed of 30 symptomatic undiagnosed patients with suspected genetic disease (children and adults with infantile onset) belonging to the Clinical Center of the Mario Negri Institute for Pharmacological Research and for whom WES investigations did not reveal causative genetic alterations.
NCT07454174
This is a 16 week pilot study of the impact of a nutritionist led ketogenic diet (Ren-Nu) supplemented with the medical food KetoCitra on autosomal dominant polycystic kidney disease.
NCT04782258
To evaluate the safety of tolvaptan in pediatric subjects with ARPKD
NCT06902558
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common genetic cause of kidney disease that causes fluid-filled cysts to develop in the kidneys. The purpose of this study is to assess the safety and efficacy of ABBV-CLS-628 for the treatment of ADPKD in adult participants. ABBV-CLS-628 is an investigational drug being developed for the treatment of ADPKD. Participants are placed in 1 of 4 groups, called treatment arms. Each group receives a different treatment. There is a 1 in 4 chance that participants will be assigned to placebo. Around 240 adult participants with ADPKD will be enrolled at approximately 100 sites worldwide. Participants will receive IntraVenous ABBV-CLS-628 or placebo every 4 weeks for 92 weeks. Participants will be followed for up to 15 weeks. There may be higher treatment burden for participants in this trial compared to their standard of care . Participants will attend regular visits during the study at a hospital or clinic. The effect of the treatment will be checked by medical assessments, blood tests, checking for side effects and completing questionnaires.
NCT05190744
The purpose of this research is to study the effectiveness and safety of the medication PB in slowing the frequent urination related to tolvaptan as long-term treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD), or frequent urination related to inherited nephrogenic diabetes insipidus as an inherited condition or as an acquired condition from prior treatment with lithium.
NCT03901521
This study will analyze the germline and somatic mutations underlying the development of ADPKD in order to better understand the genetic mechanism responsible for the cystic transformation. Once identified, these mutations could help us understand better the mechanism leading to the development of this disease and may explain at least in part the phenotypic variability.
NCT05473637
The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.
NCT04786574
The primary objective of this study is to evaluate the effect of tolvaptan on the need for renal replacement therapy in pediatric subjects with autosomal recessive polycystic kidney disease (ARPKD)
NCT07260071
The goal of this project is to measure the prevalence of Autosomal Dominant Polycystic Kidney Disease (ADPKD) and hypertension in the general population of children and young people at risk of ADPKD, using magnetic resonance imaging (MRI) for rapid diagnosis alongside genetic testing. The main question it aims to answer is: What is the prevalence of hypertension in a population sample of adolescents with ADPKD? Participants will have the following measurements performed: * Height and weight. * Blood pressure. * Non-invasive measurement of arterial stiffness. * Cardiac and renal MRI. * Blood sample. * Genetic testing.
NCT07201025
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments. Clinical trials have been limited by the absence of robust measures of disease progression. The overall goal of this 5 year NIH-funded prospective, observational multicenter study conducted at CC (primary site) and Children's Hospital of Philadelphia (CHOP) (collaborating site) is establish a set of rapid, quantitative, and reproducible novel kidney MRI measures applicable to standard clinical MRI scanners, which could serve as potential biomarkers to measure response to therapy in patients across the disease spectrum and all ages. The investigators will recruit a total of 45 ARPKD patients and 15 healthy controls at the the two sites . All subjects will be \> or = 6yrs old with no contraindications to undergoing MRI (non contrast). ARPKD subjects will be recruited into one of 3 cohorts based on their estimated glomerular filtration rate (eGFR): early CKD (eGFR\> or =90ml/min/1.73m2), mild CKD (60-89ml/min/1.73m2) and moderate CKD (30-59ml/min/1.73m2). For ARPKD subjects, participation will last 3 years and consist of a baseline and 3 subsequent annual visits. Healthy controls will only have 1 study visit. Study visits for all participants will include collection of clinical and demographic data, clinical blood and urine tests (E.g. serum creatinine) and MRI imaging. ARPKD (but not healthy subjects) will also undergo a measured GFR test (iohexol clearance) to accurately assess their kidney function.
NCT06594367
This is an observational study aimed at assessing if a new and specific heterozygous deletion detected at PKD2 gene is associated to a "founder effect" in 10 Autosomal dominant polycystic kidney disease (ADPKD) patients, and at investigating the genotype-phenotype correlation in the families sharing the same PKD2 breakpoint site.
NCT06325644
This is a prospective study to determine ketogenic diet effect on htTKV, GFR, microalbuminuria. This is a single-center study of 20 patients with ADPKD and deemed high risk for progression to ESRD. This determined by combination of features of ADPKD and htTKV as assessed by prior computed tomography (CT) or MRI. Patients will be recruited from the Polycystic Kidney Disease (PKD) Clinic at Ohio State University Wexner Medical Center. Enrolled patients will have MRI for htTKV, urinary studies, blood tests at baseline, 6 months, and 52 weeks. Blood for GFR will be assessed three times over the course of the study including baseline, 6 months, and 1 year. Participants will follow ketogenic diet for 52 weeks. Investigatory diet team will manage the ketogenic diet.
NCT07181265
This is a open-label, non-randomized, multiple oral dosings, three-period, drug-drug interaction study of JMKX003142 tablet, Amiodarone Hydrochloride Tablets and Febuxostat Tablets in Chinese healthy adult subjects
NCT01873235
Advances in our understanding of the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) have opened up possibilities of new therapies to prevent disease progression. High quality clinical investigations in patients with ADPKD, however, pose significant challenges to investigators including limited access to patients with ADPKD,insufficient guidance by experienced investigators and lack of resources to conduct these studies. The Polycystic Kidney Disease Research Clinical and Translational Core (P30) aims to establish an infrastructure that will assist investigators in designing and conducting highest quality clinical and translational research focused on a diverse group of patients with ADPKD. Objective 1: To establish a Mid-Atlantic cohort of ADPKD patients (N=350) with baseline clinical phenotyping performed at the General Clinical Research Unit of the University of Maryland School of Medicine. Objective 2: To establish a state-of-the-art biobank of specimens from the ADPKD cohort including serum, plasma,urine and DNA. Objective 3: To develop a collaborative network of physicians and practices in the Mid-Atlantic region who will contribute to the ADPKD cohort and will be willing to refer patients for future studies and trials. Objective 4: To establish a web-based registry of ADPKD patients in the Mid-Atlantic area.
NCT06193616
In this observational, retrospective study we will primarily aim at evaluating the independent role of baseline clinical and laboratory parameters, including TKV, in the prediction of long term chronic GFR decline and other clinical outcomes and, secondarily, the relationships between GFR and TKV changes over time, in a cohort of ADPKD patients with Stage IV CKD on chronic treatment with octreotide LAR and routinely monitored with serial GFR, TKV and clinical evaluations, at the outpatient clinic of the Nephrology Unit of the Azienda Socio-Sanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy.
NCT05228574
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease characterized by cystic kidneys and caused by mutations in the polycystic kidney disease and other rare genes. It is associated with salt-sensitive hypertension, which accounts for the majority of morbidity and mortality. About 70% of patients with ADPKD develop hypertension, prior to the onset of kidney function decline. Early onset hypertension, despite its treatment, is independently associated with rapid kidney function decline. The investigators hypothesize that a high-sodium diet in patients with ADPKD is required for the development of vascular stiffness, which precedes hypertension, and that treatment with amiloride reverses this phenomenon.
NCT04284657
This is an one-year open-label study to determine treatment efficacy and feasibility of a trial that uses open-label interventions in ADPKD patients.