National Registry of Rare Kidney Diseases
Adenine Phosphoribosyltransferase DeficiencyAH Amyloidosis85 moreThe 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.
Alport Syndrome Treatments and Outcomes Registry
Alport SyndromeASTOR's primary purpose is to enroll families and patients with a history of Alport syndrome in a central registry. The information we gather will be used as a basis for studies designed to test potential treatments for Alport syndrome. ASTOR also aims to provide patients, families and physicians with the most up-to-date information about Alport syndrome.
An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE)
Chronic Kidney DiseasesAlport Syndrome1 moreThis extended access study will assess the long-term safety and tolerability of bardoxolone methyl in qualified patients with chronic kidney disease (CKD) who previously participated in one of the qualifying clinical studies with bardoxolone methyl. Patients will remain in the study until bardoxolone methyl is available through commercial channels or until patient withdrawal, whichever is sooner.
Study of Lademirsen (SAR339375) in Patients With Alport Syndrome
Alport SyndromePrimary Objectives: To assess the efficacy of lademirsen (SAR339375) in reducing the decline in renal function. To assess the safety and tolerability of lademirsen (SAR339375) in participants with Alport syndrome. Secondary Objectives: To assess plasma pharmacokinetic (PK) parameters of the parent compound and its active major metabolite. To assess the potential formation of anti-drug antibodies (ADAs) following administration of lademirsen (SAR339375). To assess the pharmacodynamic effect of lademirsen (SAR339375) on miR-21 and on changes in renal injury and function biomarkers.
A Study of RG-012 in Subjects With Alport Syndrome
Alport SyndromeThis is a Phase 1, open-label, multi-center study of the safety, pharmacodynamics, and pharmacokinetics of RG-012 administered to subjects with Alport syndrome.
Efficacy and Safety Study to Delay Renal Failure in Children With Alport Syndrome
Renal InsufficiencyChronicThis is a phase III, multi-centre, randomised, placebo-controlled, patient and investigator-blind study in paediatric patients with early stages of Alport syndrome to assess the safety and efficacy of the ACEi ramipril in slowing disease progression. Alport syndrome stages that describe the extent of renal damage and loss of function are defined as: 0 Microhaematuria without microalbuminuria (usually at birth) I Microalbuminuria (30-300 mg albumin/gCrea) II Proteinuria >300 mg albumin/gCrea III > 25% decline of normal renal function (creatinine clearance) IV End stage renal failure (ESRF) Eligible patients with Alport stages 0 and I will be randomly assigned at a 2:1 ratio to receive once daily ramipril or placebo. In addition, Alport stage II patients may be treated open Label. Eligible patients who, or whose parents/legal guardian refuse randomisation after eligibility is confirmed, and patients who have been treated with ramipril prior to the study, may be treated open-label with ramipril as per protocol. The total number of patients will not exceed 120, with the number of randomised patients not exceeding 60, and the number of patients treated open label from Day 1 of the study aimed to be approximately 60. Randomised patients whose disease progresses to the next disease level during the 3 year treatment period will be unblinded, and open label ramipril treatment will be initiated and continued, respectively, depending on prior treatment randomisation.
Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome
Alport SyndromeAlport syndrome (AS) represents a form of progressive hereditary nephritis in which the genetic defect resides in the synthesis of one of several subunits of type IV collagen, the predominant constituent of basement membranes in renal glomeruli. Renal impairment occurs with time and severe renal failure with hypertension and uremia represent the end stage of the disease, even if a high variability in the rate of progression is described.Males are usually affected by a progressive form of the disease. Affected females with X-linked syndrome usually have a good prognosis with a mild renal impairment. The disease is also associated to a sensor neural deafness which can occur in approximately half of the patient affected and usually correlates with renal impairment. No definite treatment exists in order to delay the time of dialysis or a kidney transplant. Many studies showed that Angiotensin converting enzyme (ACE) inhibitors slow glomerular filtration rate (GFR) decline and limit progression to end stage renal disease (ERDS) and dialysis in several chronic nephropathies associated with proteinuria. The combination of ACE-I with Angiotensin II receptor antagonists may reduce proteinuria more effectively than the two drugs alone. Moreover the addition of statins may synergize the antiproteinuric effects of ACE-I and ATAII antagonists in experimental models of chronic renal diseases. The purpose of this study is to evaluate the effect of a standardized multimodal nephroprotection intervention (Remission Clinic) in Alport patients with renal involvement.
A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome...
Alport SyndromeThis international, multi-center, Phase 2/3 trial will study the safety, tolerability, and efficacy of bardoxolone methyl in qualified patients with Alport syndrome. The Phase 2 portion of the trial will be open-label and enroll up to 30 patients. The Phase 3 portion of the trial will be double-blind, randomized, placebo-controlled and will enroll up to 180 patients.
Study of Hydroxychloroquine in Patients With X-linked Alport Syndrome in China (CHXLAS)
Alport SyndromeX-LinkedThis Phase 2 randomized controlled trial will study the safety, tolerability, and efficacy of Hydroxychloroquine in qualified patients with Alport syndrome. The trial will be open-label, randomized, controlled and will enroll up to 50 patients.
Urinary Biomarkers of the Progression of Alport Kidney Disease
Alport SyndromeThe purpose of the study is to determine if there are certain laboratory tests that can be performed to detect substances or features in a child's urine that can be used to measure the progress of Alport kidney disease and the effects of treatment. These tests and their results could be of use to measure responses to new treatments in future clinical trials.