View clinical trials related to Polycystic Kidney Diseases.
Filter by:The purpose of the study is to evaluate the safety, tolerability, and pharmacokinetic parameters of VX-407 in healthy participants.
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.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease linked to mutation of the PKD1 or PKD2 genes encoding polycystins 1 and 2. Patients develop renal cysts with progressive impairment of renal function leading to renal failure. terminal renal failure for 1/3 of them. These patients also present early with high blood pressure and cardiovascular complications, notably intracerebral aneurysms. This phenotype is linked to abnormal polycystins on the cilia of renal epithelial and vascular endothelial cells which no longer ensure the mechanotransduction of shear forces linked to urinary and blood flow leading to the modification of numerous cellular functions. Experimental results suggested that stimulation of dopamine receptor type 5 (DR5) could restore the mechanosensitivity of endothelial cells, a hypothesis supported by our first results showing that local administration of dopamine improves endothelial function in patients with ADPKD. through restoration of endothelial NO release upon increased blood flow. Similar positive results on endothelial function and hemodynamics were recently obtained in the IMPROVE-PKD study with rotigotine, a dopamine agonist administered via transdermal patches for 2 months at a low dose (4 mg/24h). Dopaminergic stimulation could also prevent abnormalities linked to polycystin deficiency at the renal level and we therefore hypothesize that rotigotine could slow the progression of ADPKD both at the renal and cardiovascular levels. This phase 2 study aims to ensure the good long-term tolerance of rotigotine in patients with ADPKD and to collect preliminary data on its renal impact.
Clinical trial of tamibarotene in patients with Autosomal Dominant Polycystic Kidney Disease
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.
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.
The investigators are running a study to see if a special drink, called a "ketone ester", can help people with a type of kidney disease named "Autosomal Dominant Polycystic Kidney Disease" or ADPKD for short. The investigators want to find out: If it's easy for patients to take this drink every day for about 2 months. If it's safe and doesn't cause any problems. If it makes a difference in the size and function of the kidneys. Who can join? People between 16 to 70 years old who have ADPKD. Those with a certain amount of kidney size and function. People who haven't been on specific diets or lost a lot of weight recently. Women who are not breastfeeding and are using birth control. People with a body weight that is not too low or too high. Who cannot join? People who've been on a high-fat diet or skipped meals for a while recently. Those with other health conditions like diabetes or certain metabolic issues. Anyone who has a problem with getting an MRI scan. If participants are in another medical study right now. The study will happen in two Belgian hospitals and is supported by the UZ Brussel's nephrology department. The investigators hope to include 20 people and start in November 2023.
Individuals with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) often have a family history of the condition although up to 10-15% of cases are sporadic mutations. The investigators recently conducted an analysis of the investigators clinic population to determine percentages of individuals who have undergone kidney imaging and genetic testing and determined total numbers of patients eligible for tolvaptan and those currently active on tolvaptan. The study team found large racial discrepancies in usage of tolvaptan and found that more patients are eligible for tolvaptan than are currently taking the medication. Reasons for this are often due to patient perception about the medication rather than treatment failure. There is a strong medical need to understand reasons for underuse of this critical medication in this population. Among those with genetic testing, the study team found large disparities in ethnic background between individuals offered genetic testing who accept versus decline testing. The study team also found that those who choose to pursue genetic testing are more likely to have no family history of the condition, presumably because the diagnosis is more "surprising" to them and thus desire for verification by genetic testing, if possible, is greater. However, it is known that genetic testing can be an important component of understanding of disease biology in all patients with ADPKD, while also providing important clinical information in some cases as individuals prepare for living donor transplantation or family planning. The investigators seek to understand barriers to use of tolvaptan and genetic testing among individuals in the clinic population and their relatives across a wide range of racial and ethnic backgrounds. The investigators hypothesize that anxiety about genetic conditions in particular is a barrier to accepting testing. The investigators seek to understand the mental health aspects of the diagnosis of ADPKD. They will also evaluate changes in symptoms compared to pre-treatment after initiation of tolvaptan in eligible individuals using qualitative techniques. In so doing, the study team hope to improve care for current patients and also to expand the pool of the clinic population to include newly diagnosed family members ideally at early stages of disease.
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: - Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. - Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. - Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.
Autosomal dominant polycystic kidney disease is characterised by the development of renal and hepatic cysts. While the main complication is chronic end-stage renal failure, specific cyst-related complications are common: intracystic haemorrhage, renal or hepatic cyst infections, cyst-related mechanical complications and lithiasis. To date, there is no reliable epidemiological data on the frequency and clinical impact of these complications. Diagnosis of these complications is often complicated, and their management has not been codified. The latest international recommendations (KDIGO) provide only low-level recommendations. For the most complex cases (recurrent cystic infections, resistant pain, mechanical complications and malnutrition, need for pre-transplant nephrectomy, etc.), practitioners are often at a loss and management varies greatly from one centre to another.