View clinical trials related to Polycystic Kidney Diseases.
Filter by:Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects. The pathophysiology is poorly understood The prevalence and etiopathogenesis of the disease is not known Medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as Wilms tumors, horseshoe kidney, contralateral renal hypoplasia, Beckwith-Wiedemann syndrome, Caroli disease, or congenital hepatic fibrosis, for example. However, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease. However familial cases have been reported with an autosomal dominant mode. The pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. Some authors suggested that the GDNF and RET genes may be involved in the physiopathology of the disease. For instance 12% of heterozygous patients for rare GDNF variants were identified in an Italian cohort of 57 medullary sponge kidney patients. Other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative Medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections. Additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition. The aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.
This study plans to learn if pravastatin is helpful in slowing down the progression of kidney disease in adults with autosomal dominant polycystic kidney disease (ADPKD). Pravastatin has been approved by the Food and Drug Administration (FDA) for adults for treatment of hyperlipidemia (high cholesterol levels). The investigators are using pravastatin in this study as an investigational drug for treatment of ADPKD.
This is a prospective, non-interventional study (NIS) measuring health-related quality of life (HRQoL), treatment satisfaction, and other patient-reported outcomes (PROs) of ADPKD patients in Europe.
Investigation of the therapeutic effects of tolvaptan in patients with autosomal dominant polycystic kidney disease This is a prospective 5-year study to compare the change in total kidney volume (TKV) before and after tolvaptan therapy, as the primary endpoint, in patients with ADPKD. Study results will be summarized, analyzed, and compiled into a research paper at 5 years (data cut-off, Aug 31, 2020).
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive cyst formation in both kidneys, in most patients leading to end stage renal disease. It is the most common hereditary renal disease with a prevalence of approximately 1 in 1,000 persons. The majority of patients also have progressive cyst formation in the liver, leading to pain, gastrointestinal discomfort and sometimes the need for liver transplantation. At present there is no proven therapeutic intervention to slow the rate of disease progression in human ADPKD. The development of renoprotective treatments that are well tolerated, is therefore of major importance. In this respect, somatostatin analogues are promising for especially polycystic liver disease, but also for the renal phenotype. However, the studies that have been performed thus far with these agents, were underpowered and of too short duration to reach a definitive conclusion on the potential reno- and hepatoprotective efficacy of somatostatin analogues. Therefore, the present study is designed as a randomised clinical trial with sufficient duration of follow-up to investigate whether the somatostatin analogue Lanreotide slows progression of polycystic kidney and liver disease in ADPKD-patients. To this end, 300 ADPKD patients, aged 18-60years, with an eGFR 30-60 ml/min/1.73 m2) will be randomized 1:1 to standard care or monthly subcutaneous lanreotide injections on top off standard care. These 300 subjects will go through 15 study visits in 3 years and 1 follow up visit. During these visits, questionnaires will be filled in, physical examinations will be performed, blood will be drawn and urine collected. After study completion, rate of renal function decline in lanreotide treated subjects will be compared to that of subject who received standard care.
Polycystic kidney disease (PKD) is a genetic disease that occurs in 1 in 500 individuals and leads to kidney failure in half of all affected. Currently, no treatments exist for PKD. PKD-affected kidney cells divide and multiply inappropriately, and form fluid-filled sacs called cysts. Kidney cysts continue to grow throughout life, destroying normal kidney tissue, leading to kidney failure. Based on evidence from basic science research it is believed that drinking high amounts of water can slow the abnormal cysts growth. This study aims to look at changes in urine composition with high water intake in PKD-affected persons compared to healthy individuals.
Positive data originating from two polycystic liver patients treated with somatostatin analogues, showed a volume reduction of 38.3% and 14.9%. These two patients had complicated polycystic livers and no other therapeutic options were available. Patients who participated in LOCKCYST trial are able to benefit from active treatment. Participants will be actively treated for 24 weeks.
The University of Alabama at Birmingham Recessive Polycystic Kidney Disease Core Center (UAB RPKDCC) has established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. Among the five Cores, the UAB RPKDCC includes the ARPKD Clinical and Genetic Resource, a Core resource designed to develop a unique set of clinical, genetic, and educational resources for ARPKD. The Core has three primary objectives: 1. To extend the observational study of ARPKD initiated by the North American ARPKD Database. 2. To provide a mechanism for genetic evaluation of patients with both classic ARPKD and unusual phenotypes of recessive PKD. 3. To develop educational tools for physicians and patients regarding the natural history, cause, development and effects of the disease, genetic testing, and clinical trials applicable to ARPKD.