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About 758 results

ALLMedicine™ Alport Syndrome Center

Research & Reviews  283 results

Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p....
https://doi.org/10.1093/ndt/gfac006
Nephrology, Dialysis, Transplantation : Official Publicat... Boeckhaus J, Hoefele J et. al.

Jan 14th, 2022 - Angiotensin-converting enzyme inhibitors (ACEis) have evolved as a first-line therapy for delaying end-stage renal failure (ESRF) in Alport syndrome. The present study tested the hypothesis of a superior nephroprotective potential of an early ACEi...

Dissecting the genotype-phenotype correlation of COL4A5 gene mutation and its response ...
https://doi.org/10.1093/ndt/gfac002
Nephrology, Dialysis, Transplantation : Official Publicat... Di H, Zhang J et. al.

Jan 13th, 2022 - Alport syndrome (AS) is an inherited type IV collagen-related disorder with an irreversible tendency to progress to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by mutations in the COL4A5 gene. The aim of this study was to investig...

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615339
Medicine Chen JY, Cui JJ et. al.

Dec 30th, 2021 - Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities. A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria. Combined with clinical...

Guidelines for Genetic Testing and Management of Alport Syndrome.
https://doi.org/10.2215/CJN.04230321
Clinical Journal of the American Society of Nephrology : ... Savige J, Lipska-Zietkiewicz BS et. al.

Dec 22nd, 2021 - Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic test...

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygou...
https://doi.org/10.1111/ahg.12454
Annals of Human Genetics; Mohamed M, Tellez J et. al.

Dec 11th, 2021 - Alport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear and eye, and represents a leading cause of monogenic kidney disease. Alport syndrome is genetically heterogeneous with three key genes involved (COL4A3-5) an...

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Guidelines  1 results

Clinical practice recommendations for the treatment of Alport syndrome: a statement of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505543
Pediatric Nephrology (Berlin, Germany); Kashtan CE, Ding J et. al.

Mar 31st, 2012 - We present clinical practice recommendations for the treatment of children with Alport syndrome who are not enrolled in clinical trials. Our goal is to promote early initiation of a standard therapeutic approach that will facilitate assessment of ...

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Clinicaltrials.gov  11 results

Safety and Efficacy of ACEI in Alport Syndrome Patients With COL4A3/COL4A4/COL4A5 Variants
https://clinicaltrials.gov/ct2/show/NCT05133050

Nov 24th, 2021 - Alport syndrome (AS) is the second most common monogenic cause of end-stage renal failure (ESRF). AS is caused by variants in the COL4A3, COL4A4, and COL4A5 genes, which encode for the a3, a4, and a5 chains of type IV collagen. This trial is a pro...

A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL
https://clinicaltrials.gov/ct2/show/NCT03019185

Sep 28th, 2021 - This 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....

Study of Hydroxychloroquine in Patients With X-linked Alport Syndrome in China (CHXLAS)
https://clinicaltrials.gov/ct2/show/NCT04937907

Sep 16th, 2021 - This 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. Pa...

Genotype-Phenotype Correlations in Patients With Alport Syndrome
https://clinicaltrials.gov/ct2/show/NCT04947813

Jul 1st, 2021 - Alport syndrome (AS) is a genetically and phenotypically heterogeneous disorder caused by the mutations in the type IV collagen genes COL4A3, COL4A4, and COL4A5. In this study, next generation sequencing is used to screen AS on 8165 participants e...

European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome
https://clinicaltrials.gov/ct2/show/NCT02378805

Apr 28th, 2021 - Early diagnosis in children with Alport syndrome (AS) with isolated hematuria opens a "window of opportunity" for early intervention. Currently there are no causal therapeutic options which are proven to delay renal failure in AS. ACE-inhibition (...

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News  8 results

FDA Panel Shoots Down Drug for Alport Syndrome CKD
https://www.medpagetoday.com/nephrology/generalnephrology/96095

Dec 9th, 2021 - An emotional FDA advisory panel on Wednesday unanimously rejected bardoxolone methyl as a treatment for chronic kidney disease (CKD) caused by Alport syndrome, a rare genetic disease that typically leads to renal failure. By a tally of 13-0, the C...

Alport Syndrome Research Funding Is Awarded
https://www.mdedge.com/pediatrics/article/148143/rare-diseases/alport-syndrome-research-funding-awarded

Sep 27th, 2017 - Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrom.

Alport Syndrome Research Funding Is Awarded
https://www.mdedge.com/clinicianreviews/article/148143/rare-diseases/alport-syndrome-research-funding-awarded

Sep 27th, 2017 - Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrom.

Marijuana and Transplants: A Catch-22 (CNN)
https://www.medpagetoday.com/transplantation/transplantation/64660

Apr 19th, 2017 - Use of medical marijuana may disqualify candidates for organ transplant, as a Maine man learned the hard way, according to CNN. Awaiting a kidney transplant in 2010, Garry Godfrey learned he had been dropped from the wait list because of his presc...

External Resources and Information Related to Patients’ Experience
http://www.fda.gov/drugs/development-approval-process-drugs/external-resources-and-information-related-patients-experience

  This webpage is intended to facilitate public discussion of patient-focused drug development and evaluation. This webpage provides links to certain publicly available external reports and resources relating to patient experience data. The patien...

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