×
About 925 results

ALLMedicine™ Alport Syndrome Center

Research & Reviews  337 results

Genetic testing and glomerular hematuria-A nephrologist's perspective.
https://doi.org/10.1002/ajmg.c.31987
American Journal of Medical Genetics. Part C, Seminars In... Kashtan CE

Jul 2nd, 2022 - Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes-COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the on...

Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases
https://clinicaltrials.gov/ct2/show/NCT05003986

Jun 23rd, 2022 - This is a multicenter, open-label, 108-week study of sparsentan in approximately 57 pediatric subjects aged ≥1 year to <18 years with selected proteinuric glomerular diseases, divided into 2 populations, defined as follows: Population 1: Subjects ...

X-Linked Kidney Disorders in Women.
https://doi.org/10.1016/j.semnephrol.2022.04.002
Seminars in Nephrology; Quinlan C, Rheault MN

Jun 20th, 2022 - A number of genes that cause inherited kidney disorders reside on the X chromosome. Given that males have only a single active X chromosome, these disorders clinically manifest primarily in men and boys. However, phenotypes in female carriers of X...

A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish.
https://doi.org/10.1016/j.kint.2022.05.019
Kidney International; Naylor RW, Lemarie E et. al.

Jun 19th, 2022 - The zebrafish is an important animal system for modelling human diseases. This includes kidney dysfunction as the embryonic kidney (pronephros) shares considerable molecular and morphological homology with the human nephron. A key clinical indicat...

see more →

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 ...

see more →

Clinicaltrials.gov  20 results

Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases
https://clinicaltrials.gov/ct2/show/NCT05003986

Jun 23rd, 2022 - This is a multicenter, open-label, 108-week study of sparsentan in approximately 57 pediatric subjects aged ≥1 year to <18 years with selected proteinuric glomerular diseases, divided into 2 populations, defined as follows: Population 1: Subjects ...

Atrasentan in Patients With Proteinuric Glomerular Diseases
https://clinicaltrials.gov/ct2/show/NCT04573920

Jun 7th, 2022 - The AFFINITY Study is a phase 2, open-label, basket study to evaluate the efficacy and safety of atrasentan in patients with proteinuric glomerular disease who are at risk of progressive loss of renal function. Cohorts will consist of patients wit...

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

May 24th, 2022 - 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 (...

Study to Evaluate R3R01 in Patients With Alport Syndrome and Patients With Focal Segmental Glomerulosclerosis
https://clinicaltrials.gov/ct2/show/NCT05267262

May 10th, 2022 - R3R01 is investigational small molecule designed to decrease fat levels in certain cells in the kidney and therefore may improve kidney function and reduce damage in the kidney. This is a single arm open-label study enrolling patients in three coh...

Study of Lademirsen (SAR339375) in Patients With Alport Syndrome
https://clinicaltrials.gov/ct2/show/NCT02855268

May 9th, 2022 - The planned length of participation in the study for each subject is up to approximately 110 weeks (from screening through completion of follow-up). This includes: Screening/baseline period of up to 4 weeks Double-blind, placebo-controlled treatme...

see more →

News  12 results

FDA Rejects Bardoxolone as First Alport Syndrome Agent
https://www.medscape.com/viewarticle/970302

Mar 15th, 2022 - In late February, the US Food and Drug Administration (FDA) declined to grant marketing approval to the novel agent bardoxolone methyl as a treatment for Alport syndrome, which means this rare genetic disease that causes early onset progressive ki...

Ukraine Low on Medical Oxygen; COVID's Origin Settled? N.Y.C. Ditches Vax Passport
https://www.medpagetoday.com/infectiousdisease/covid19/97402

Feb 28th, 2022 - Note that some links may require registration or subscription. Ukraine is running out of medical oxygen for critically ill people, the World Health Organization warned. (Reuters) "Show this to Putin." -- The AP captured healthcare workers' unsucce...

Acrokeratoelastoidosis and Knuckle Pads Coexisting in a Child
https://www.mdedge.com/dermatology/article/178641/pediatrics/acrokeratoelastoidosis-and-knuckle-pads-coexisting-child
Carl Barrick, DO, Joshua Moran, BS et. al.

Nov 1st, 2018 - Case Report An 11-year-old boy presented with atraumatic thickening of the skin on the bilateral distal and proximal interphalangeal joints of 1 year’s duration. The patient also noted small bumps of unknown duration across the bilateral palms and.

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.

see more →