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About 675 results

ALLMedicine™ Alport Syndrome Center

Research & Reviews  257 results

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their ...
https://doi.org/10.1053/j.ajkd.2021.04.017
American Journal of Kidney Diseases : the Official Journa... Savige J, Harraka P

Jul 11th, 2021 - Massively Parallel Sequencing identifies pathogenic variants in the genes affected in Alport syndrome (COL4A3 - COL4A5) in up to 30 % of individuals with focal and segmental glomerulosclerosis (FSGS), 10 % of those with kidney failure of unknown c...

Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family hist...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8265006
European Journal of Medical Research; Ding Y, Tang X et. al.

Jul 10th, 2021 - Alport syndrome and C3 glomerulonephritis (C3GN) are rare kidney diseases, frequently responsible for familial haematuria, proteinuria, and renal impairment. With the rapid development of molecular genetic testing, Alport syndrome causes have been...

Severe restless legs syndrome in a family with Alport syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256610
BMC Nephrology; Sparasci D, Rossinelli A et. al.

Jul 7th, 2021 - Restless legs syndrome (RLS) is a common sleep-related movement disorder characterized by an urge to move the legs during inactivity, especially at evening-night. RLS is highly prevalent in patients with kidney failure and have an impact on qualit...

Esophageal Leiomyomatosis Complicated with Achalasia in a Child with Alport Syndrome.
https://doi.org/10.1097/MPG.0000000000003210
Journal of Pediatric Gastroenterology and Nutrition; Chen JJ, Lien CH et. al.

Jun 27th, 2021 - Esophageal Leiomyomatosis Complicated with Achalasia in a Child with Alport Syndrome.|2021|Chen JJ,Lien CH,Cheng YJ,|

Extra-axial haemorrhage in a patient with Alport syndrome after epidural anaesthesia.
https://doi.org/10.1136/bcr-2021-242160
BMJ Case Reports; Wijayanayaka S, Guha A et. al.

Jun 5th, 2021 - Extra-axial haemorrhage following epidural anaesthesia is extremely rare. We present the case of an 18-year-old G1P0 woman with Alport syndrome who had a ventouse delivery for failure to progress that was complicated by a postpartum tonic-clonic s...

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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  5 results

Alport Syndrome Treatments and Outcomes Registry
https://clinicaltrials.gov/ct2/show/NCT00481130

Dec 11th, 2019 - The University of Minnesota's Department of Pediatrics has created the Alport Syndrome Treatments and Outcomes Registry (ASTOR). ASTOR's primary purpose is to enroll families and patients with a history of Alport syndrome in a central registry. Th...

A Study of RG-012 in Subjects With Alport Syndrome
https://clinicaltrials.gov/ct2/show/NCT03373786

May 24th, 2019 - This is a Phase 1, multi-center study of the safety, pharmacodynamics, and pharmacokinetics of RG-012 administered to subjects with Alport syndrome. During this open-label study, all eligible subjects will receive RG-012. The study consists of two...

A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome
https://clinicaltrials.gov/ct2/show/NCT00622544

Jul 20th, 2018 - Study Aims To determine the average ages of onset of microalbuminuria and overt proteinuria in untreated boys with Alport syndrome To determine the average duration of microalbuminuria before transition to overt proteinuria in untreated boys with ...

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

May 1st, 2018 - 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 (...

Urinary Biomarkers of the Progression of Alport Kidney Disease
https://clinicaltrials.gov/ct2/show/NCT01705132

Jul 30th, 2013 - This is a prospective cross-sectional, observational, single-center study of affected Alport patients who have not progressed to advanced chronic renal insufficiency (CKD Stages 4 or 5), and who do not have nephrotic range proteinuria (urine prote...

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News  7 results

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.

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...

External Resources or Information Related to Patients’ Experience
http://www.fda.gov/drugs/development-approval-process-drugs/external-resources-or-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 patient ...

Alport Syndrome Foundation Announces Research Funding
https://www.mdedge.com/clinicianreviews/article/131705/rare-diseases/alport-syndrome-foundation-announces-research-funding

Feb 17th, 2017 - The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated.

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