Active clinical trials for "Hyperoxaluria, Primary"

The purpose of this study is to identify unique urine protein markers of Primary Hyperoxaluria type 1 (PH1) compared to healthy controls. Urine protein markers can be identified by "proteomic" analyses in which proteins are processed in a lab to break them down into smaller building blocks. Using analytical chemistry techniques and specialized equipment many proteins can be identified and measured. Most proteins are found in healthy living cells while subtle changes in these proteins or the presence of different markers reflect abnormal processes and patterns of disease. When identified in disease, protein biomarkers can help to determine if a disease responds to new types of therapies. In this study, changes in urine proteomic patterns over time, their association with change in estimated (calculated) kidney filtering function, and the relative risk for progression of PH1 will be determined. Additionally, as part of the study, the investigators will measure urinary proteins and peptides that are markers of kidney tissue protection (for healthy healing of the kidneys from ongoing damage from high urine oxalate levels, oxalate crystals and stones) to establish if and when these markers are prospectively decreased in PH1 urine. Longitudinal studies of urine "proteomics" may assist in identifying the mechanisms behind PH1-related progression of kidney failure and might contribute important information towards future identification and development of effective therapies to slow or prevent kidney failure in PH1.

The aim of this study is to know the difference between protein profiles (multi-analyte profile) of PH1 patients, idiopathic hypercalciuria (IH) patients and PH1 patients 'siblings. Idiopathic hypercalciuria is a less severe kidney disease that PH1, which also leads to the formation of kidney stones. The aim is to identify patterns of discriminating markers associated with primary hyperoxaluria type 1 (PH1) that will significantly improve clinical diagnosis and prognosis.

This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.

Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium

Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.

To characterize the microbiome in 4 groups of subjects (primary hyperoxaluria type I (PH1), idiopathic CaOx stone, enteric hyperoxaluria (EH) and healthy participants) by comparing the number of species and diversity of the microbial populations and pathway for oxalate metabolism by paralleling the gene expression of enzymes involved in oxalate degradation by gut bacteria.

The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria. This medical information will be entered into a registry to help the investigators compare similarities and differences in patients and their symptoms. The more patients that the investigators are able to enter into the registry, the more the investigators will be able to understand primary hyperoxaluria and learn better ways of treating patients with this disease. It is the investigators hope that by entering as many patients with PH as possible, the information that the investigators collect may help physicians diagnose patients sooner and determine what treatments may work best on patients with similar medical or genetic backgrounds.

The purpose of this program is to provide participants with access to an investigational drug, nedosiran, for treatment of primary hyperoxaluria type 1 (PH1). Eligible participants may receive nedosiran in this program until the drug is commercially available or until Novo Nordisk terminates the program, whichever comes first. Novo Nordisk may terminate the program at any time for any reason, including if the drug receives regulatory approval and becomes commercially available, or if the drug does not receive regulatory approval. Nedosiran will be given once a month with a thin needle in the thigh or abdomen. The study doctor will ask the participant to come to the clinic monthly. The study doctor may allow participant to take nedosiran at home for self-administration. The participant should let the doctor know if they are unable to make a visit so it can be rescheduled. Participants to inform the study doctor of any medications they are taking, including over the counter medicines, vitamins, and herbal medicines. If any medications change in dose, or new medications are added, participants should inform the study doctor. Study doctor should be informed of any new or continued health problems or any changes in the participant's health.

The purpose of this study is to provide expanded access to lumasiran for adults and pediatric patients with Primary Hyperoxaluria Type 1 (PH1),

985 / 5000 Résultats de traduction Primary hyperoxaluria is a rare autosomal recessive disease with an estimated prevalence of around 1 to 3 cases per million population. The most frequent attacks are urolithiasis disease and nephrocalcinosis, ultimately leading to end-stage chronic renal failure. The phenotype of this pathology is very heterogeneous, making the diagnosis difficult. There is currently a significant diagnostic delay. This is potentially due to atypical forms, or to insufficient clinicians' awareness of its research. However, the early diagnosis of this pathology is essential, since end-stage chronic renal failure can be avoided or at least delayed with early and appropriate management. The objective of the study is to describe the phenotype of currently diagnosed primary hyperoxaluria, in order to identify the classic presentations but also the characteristics of atypical presentations