Alport Syndrome

Alport syndrome AS is a rare genetic disorder caused by changes in specific genes that produce collagen, leading to kidney disease, hearing loss, and eye problems. People with AS face a high risk of chronic kidney disease CKD, which gradually reduces kidney function and can lead to end-stage kidney disease. A common sign of worsening kidney function is proteinuria, the presence of excess protein in the urine. This study evaluates the effects of BAY 3401016, a monoclonal antibody designed to block the protein Semaphorin 3A Sema3A, which may contribute to kidney damage in AS. Participants are randomly assigned to receive either BAY 3401016 or a placebo once weekly for 24 weeks, alongside their background therapy. The study includes an extension phase to further assess the treatments safety and efficacy. Participants will be involved for at least 24 weeks of treatment, followed by a 90-day follow-up period. Researchers will monitor kidney function by measuring the urinary albumin creatinine ratio UACR at several points during treatment and after its completion. Safety and tolerability of BAY 3401016 will also be carefully assessed throughout the study period.

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 studying hepato-renal fibrocystic diseases HRFD, which include rare conditions like Autosomal Recessive Polycystic Kidney Disease ARPKD, Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis, Caroli syndrome, oro-facial-digital syndrome, nephronophthisis, and glomerulocystic kidney disease. The study aims to create a coordinated clinical and genetic database to improve diagnosis, treatment, and research progress by sharing information and biological samples among institutions. Participants can contribute to a clinical database by allowing access to their medical records, which will be anonymized and entered into a shared database. Optional parts of the study include genetic testing through blood or saliva samples from the participant and their parents, as well as donating tissue samples collected during medical procedures or autopsies. These samples will be stored in specialized repositories to support future research. Participants will have their medical records reviewed periodically, with initial data entry and annual follow-ups for the duration of the study or until they choose to withdraw. Genetic and tissue samples will be processed and stored securely. The main outcome is the development and maintenance of a comprehensive translational resource for HRFD over five years. The study does not require clinic visits and involves minimal participant burden while contributing valuable data and materials for ongoing research.

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 syndromes progression and treatment patterns.

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 kidneys 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 diseases overall impact on daily living. The studys 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 COL4A3COL4A4COL4A5 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 precision medicine approach for patients with nephrotic syndrome and related glomerular diseases through the NEPTUNE Match study. This study aims to improve communication between kidney patients and their physicians about clinical trial options that match the patients specific disease profile. The study involves participants from the NEPTUNE observational cohort, including those with biopsy-confirmed Focal Segmental Glomerulosclerosis, Minimal Change Disease, or Membranous Nephropathy, as well as younger patients with documented nephrotic syndrome. The study uses a Molecular Nephrology Board to assess participant profiles and match them with suitable clinical trials. A specialized Communication Team then shares this information with patients and their clinicians to help inform trial enrollment decisions. The study monitors outcomes over several months, including the effectiveness of communication methods, psychological distress, and kidney health endpoints specific to each matched trial. The study is open-label and involves no placebo or drug intervention but focuses on communication and matching strategies. Participants are involved in the matching process using data from their prior NEPTUNE observational study participation. Assessments include measuring communication effectiveness with the Teach Back method shortly after communication, as well as psychological distress evaluations at follow-up. Kidney health outcomes are tracked for up to five years depending on the individual trial. Participation requires regular nephrology care at a NEPTUNE study site, and consent and assent are obtained as appropriate.

This research aims to assess the burden and variety of periodontal disease in adults with rare kidney disorders such as Alport syndrome, Fabry disease, tuberous sclerosis complex, and systemic lupus erythematosus SLE, compared to those with chronic kidney disease CKD of other causes and healthy population controls. It is a cross-sectional, case-control observational study designed to better understand how these diseases may affect oral health. Participants will undergo a single study visit that includes a thorough full-mouth periodontal examination by a trained dentist, a clinical questionnaire, and review of relevant nephrological and clinical data from their medical records. The study groups include patients with genetically or clinically confirmed rare kidney diseases, SLE with kidney involvement, CKD controls, and population controls without CKD. During the study visit, researchers will collect data on periodontitis prevalence, severity of periodontal disease, gingivitis, xerostomia, and disease-specific oral findings. They will analyze associations between oral health and clinical factors such as kidney function and immunosuppressive treatment exposure. This one-time evaluation aims to provide detailed information on periodontal health across these groups, with no further follow-up visits planned.