Alport Syndrome

Alport syndrome is a hereditary type IV collagen disease that typically causes kidney failure early in life. This observational study investigates whether various medications can delay disease progression, postpone kidney failure, and improve life expectancy compared to untreated relatives. The study began as a European registry in 2006 and has expanded globally as "Alport XXL" through the International Alport Alliance, focusing on early therapy outcomes in young patients using ACE-inhibitors, Angiotensin-receptor blockers, or their combination. The study collects data on patients at different disease stages, from early microscopic hematuria to kidney failure, to assess the effectiveness of early medication initiation. Patients are grouped by treatment status and disease severity, including untreated relatives and those receiving therapy at various stages. The registry records detailed clinical data, including genetic information, urine albumin levels, kidney function, and medication doses, in a strictly observational manner without intervening in treatment decisions. Participants provide retrospective and prospective data through standardized questionnaires at baseline and follow-up visits. Data collected include kidney function tests, blood pressure, hearing loss, eye involvement, and adverse events. Researchers measure outcomes such as age at kidney failure, life expectancy, kidney function decline, and changes in urinary albumin. The study aims to observe long-term effects of therapies until 2037, supporting improved understanding of treatment timing and effectiveness in Alport syndrome.

Researchers are studying fetuses with severe kidney failure that causes very low amniotic fluid, a condition called anhydramnios. This lack of fluid can harm lung development and lead to serious health problems or death shortly after birth. The study aims to find out if repeated amnioinfusions, which add fluid to the amniotic sac, can improve survival chances until dialysis or kidney transplant is possible. This research builds on earlier findings and seeks to improve outcomes for families facing this diagnosis. Participants will be divided into two groups: one receiving serial amnioinfusions with routine care, and a control group receiving comfort care without intervention. The amnioinfusions involve injecting sterile fluid into the amniotic cavity using a thin needle guided by ultrasound. The study team will perform these procedures at a specialized fetal care center, adjusting the number of infusions as needed. The trial also includes careful safety monitoring throughout pregnancy and after delivery. During the study, participants will have regular imaging tests like ultrasounds, echocardiograms, and MRIs, along with lab tests to monitor both the fetus and mother. Researchers will track fetal survival to dialysis and transplant, maternal safety up to 30 days after birth, and other pregnancy outcomes such as timing of membrane rupture and delivery. Follow-up will continue until at least two years after birth to assess transplant eligibility and long-term survival.

Researchers are building a comprehensive registry for Hepato-Renal Fibrocystic Diseases (HRFD), which include rare conditions like Autosomal Recessive Polycystic Kidney Disease (ARPKD) and related disorders such as Joubert syndrome and congenital hepatic fibrosis. The goal is to gather clinical and genetic information and create educational resources to help families, doctors, and genetic counselors better understand these diseases. This observational study is designed to support research progress and community awareness through a shared database and biospecimen resources. Participants may choose to contribute to various parts of the study, including a clinical database, genetic testing, tissue donation, and educational resources. Medical records will be reviewed, with data entered into a secure database after removing personal identifiers. Blood or saliva samples may be collected from patients and their parents for genetic analysis, with samples stored at a specialized biorepository. Tissue samples from procedures like nephrectomy or autopsy may also be collected and stored for research. Participants will provide access to their medical information without needing to visit the study center. Data collection includes past, current, and future medical records, with annual updates for ongoing participation. Genetic and tissue samples will be stored and used to support research. The study team monitors the development of this resource over five years to enhance knowledge and treatment options for HRFD. Participation duration varies depending on continued involvement and consent.

Researchers are gathering information from individuals of all ages living with Alport syndrome and related kidney diseases in the United States and its territories. This registry study aims to better understand the genetic and clinical diversity of Alport syndrome, a genetic condition affecting the kidneys, ears, eyes, and other organs due to changes in specific collagen genes. The goal is to collect detailed patient data to help improve future research, clinical trials, and potential treatments for this complex disease. Participants join an online registry where they provide their health history and updates about their condition regularly, up to every three months. The registry is non-interventional, meaning no treatments or medications are given as part of the study. Instead, it collects real-world health information over time from patients diagnosed by healthcare professionals through genetic testing, biopsies, or clinical assessments. During the study, participants report their medical history and any changes through a secure online system that protects their privacy by keeping personal data confidential and de-identified. Parents or guardians can enroll children under 18, with age-appropriate consent and assent processes. The main measure of success is the total number of enrolled participants over five years, helping researchers gain insight into Alport syndrome's progression and treatment patterns.

Alport syndrome (AS) is a rare genetic disorder that affects the kidneys, hearing, and eyes due to changes in specific genes responsible for producing collagen. People with AS face a high risk of chronic kidney disease, where kidney function gradually worsens, often causing excess protein in the urine, called proteinuria. This study aims to evaluate how well BAY 3401016, a monoclonal antibody that blocks the protein Semaphorin 3A involved in kidney damage, works to slow kidney function loss in adults with rapidly progressing AS. Participants will receive either BAY 3401016 or a placebo once a week for 24 weeks, along with their usual background therapy if eligible. The trial is randomized and double-blind, meaning neither participants nor researchers know who receives the study drug or placebo. This is a Phase 2a study with an extension phase to further assess BAY 3401016's effects in adults aged 18 to 45 years. During the study, researchers will measure the urinary albumin creatinine ratio (UACR) over 16, 20, and 24 weeks of treatment to evaluate kidney function changes. Safety and tolerability of BAY 3401016 will also be monitored throughout the treatment and up to 90 days after the last dose. Participants will have regular assessments to track kidney health and side effects, with the total follow-up lasting beyond the treatment period.

Alport syndrome is a rare inherited condition that affects the kidneys, hearing, and eyes due to mutations in genes for type IV collagen chains in the kidney's filtering membrane. Researchers aim to better understand the natural history of this disease, including how kidney failure progresses, and to identify biomarkers that could predict kidney disease progression earlier than currently possible. The study also explores the impact of Alport syndrome on patients' education, work life, and treatment adherence, with collaboration across European countries and support from the French renal rare disease sector. This observational study involves creating a European database to collect detailed information on Alport syndrome patients. Data gathered includes kidney function measurements like estimated glomerular filtration rate (eGFR), urine analysis for blood and protein levels, hearing loss assessments, and eye examinations for related symptoms. The study also tracks blood pressure, treatment tolerance, and quality of life through questionnaires over multiple years. Participants will be followed through regular assessments at 1, 2, and 3 years to monitor kidney function, urine markers, hearing and eye health, blood pressure, and treatment safety. Researchers will also evaluate compliance with prescribed medications and the disease's overall impact on daily living. The study's goal is to collect comprehensive information to support future therapeutic trials and improve understanding of Alport syndrome progression.

Alport syndrome (AS) is a genetic disorder caused by mutations in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This research aims to enroll families and patients with a history of renal hematuria from 27 hospitals to screen for these gene variants and understand how different gene types affect kidney disease development. The study focuses on the Han Chinese population and examines links between genotype and clinical features like hearing loss, proteinuria, kidney function decline, and kidney survival. Participants undergo next generation sequencing to detect variants in COL4A3, COL4A4, and COL4A5. This observational study includes up to 8,165 individuals with a family or personal history of renal hematuria. The study tracks genotype-phenotype relationships over time, focusing on the onset age of hearing loss, proteinuria severity, decline in estimated glomerular filtration rate (eGFR), kidney survival, and progression to chronic kidney disease stage 5. Participants provide medical history and clinical data during the study, which may last up to 240 weeks. Researchers evaluate genetic findings alongside clinical outcomes to better understand AS progression. The study excludes individuals with other kidney diseases or incomplete data. The primary outcome is identifying COL4A3/COL4A4/COL4A5 gene variants, while secondary outcomes examine how these variants relate to disease characteristics and progression.

Researchers are collecting information from patients with rare kidney diseases to support research and improve care. This National Registry of Rare Kidney Diseases (RaDaR) aims to develop clinical guidelines, audit treatments and outcomes, and help develop future therapies by gathering comprehensive data. Rare kidney diseases often have genetic causes and affect patients from childhood into adulthood, but their rarity makes research and treatment development challenging. The registry gathers clinical data and biological samples from various rare kidney disease groups, each focusing on conditions like Alport Syndrome, APRT Deficiency, Polycystic Kidney Disease, and many others. It connects patients and clinicians and allows patients to contribute information about their quality of life. This infrastructure enables identification of patient groups for clinical trials, biomarker development, and genotype-phenotype studies. Participants provide clinical and disease-specific information over time, which supports epidemiological and translational research. The registry facilitates patient recruitment for studies, improves patient and clinician education, and provides access to current knowledge about rare kidney diseases. The registry is ongoing and primarily includes UK patients but also accepts international participants consented through UK NHS hospitals.

Researchers are evaluating a new way to communicate personalized clinical trial matches to kidney patients and their doctors. This open-label study focuses on patients with nephrotic syndrome and related kidney diseases such as Focal Segmental Glomerulosclerosis, Minimal Change Disease, and Membranous Nephropathy. The purpose is to improve how patients and clinicians connect about clinical trials that best fit individual patient profiles. The study includes four key parts: recruiting participants from the NEPTUNE observational study, creating patient profiles and matching them to clinical trials using molecular data, developing communication tools to share these matches with patients and investigators, and comparing kidney health outcomes between those enrolled in well-matched trials versus less aligned or unknown matches. An interdisciplinary team experienced in explaining complex kidney research supports this communication. Participants from the NEPTUNE study will be involved in assessments at several time points, including within the first month, at 12 weeks, and up to 60 months. These assessments measure how well the communication works, psychological distress, and kidney health outcomes specific to each participant's matched trial. Participants will have regular nephrology care at NEPTUNE study sites and will complete questionnaires and evaluations throughout the study period ending in 2029.

Nephronophthisis (NPH) is a genetic kidney disease caused by mutations in over 20 genes, including NPHP1 and NPHP4. It leads to reduced urine concentration, chronic kidney inflammation, and often progresses to end-stage kidney failure before age 20. NPH can occur alone or with other symptoms like retinal problems and skeletal abnormalities, all linked to ciliary dysfunction. Currently, there is no effective treatment available for this condition. Researchers are studying the proteins and signaling pathways affected by NPHP gene mutations to find new treatment targets. The study collects blood and urine samples from affected patients, healthy relatives, and control groups to analyze urine components through advanced methods like proteome and metabolomics profiling. This helps identify biomarkers and assess drug responses in kidney cells derived from patients. Participants provide samples for multiomics analyses, including protein and microRNA profiling from urine extracellular vesicles. Researchers will monitor these biomarkers to evaluate potential therapeutic targets in urine-derived kidney cells over three years. The main goal is to confirm new targets and support the development of treatments for NPH and related kidney ciliopathies.