Alport Foundation of Australia
 
CURRENT INTERNATIONAL RESEARCH Information about current research into the early detection of the syndrome, treatments and a cure can be found at the following websites. Alport Syndrome Foundation – Hope, Action, Support www.alportsyndrome.org The Alport Syndrome Foundation is a USA organization formed in 2007 by families affected by this disease. Alport Syndrome Treatments and Outcomes Registry www.med.umn.edu/peds/nephr/astor The Department of Paediatrics at the University of Minnesota has established an international registry, under the direction of Dr. Clifford E. Kashtan, for the purpose of enabling patient recruitment for clinical natural history studies and therapeutic trials in children and adolescents with Alport Syndrome. The Glomerular Disease Center at Columbia University www.glomerularcenter.org Dr. Gerald Appel, who is on the USA based Alport Syndrome Foundation Medical Advisory Committee, is Co-Director of The Center for Glomerular Diseases at Columbia University. The Center was organized to foster the advancement and study of glomerular diseases of the kidney. It is a collaborative effort of members of the Divisions of Nephrology and Renal Pathology at Columbia University and is based at the Presbyterian Division of the New York Presbyterian Hospital. Pub Med www.ncbi.nlm.nih.gov PubMed is a service of the U.S. National Library of Medicine that provides free access to the MEDLINE database (which includes millions of citations from medical journals) as well as access to additional selected life sciences journals not in MEDLINE. This site has valuable information on past and current research and includes links to the full text articles and other related resources. GeneReviews www.genetests.org This is the GeneTests Web site, a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. ClinicalTrials www.clinicaltrials.gov ClinicalTrials.gov provides regularly updated information about USA supported clinical research in human volunteers. ClinicalTrials.gov gives you information about a trial's purpose, who may participate, locations in USA. The information provided on ClinicalTrials.gov should be used in conjunction with advice from health care professionals.http://www.alportsyndrome.orghttp://www.med.umn.edu/peds/nephr/astorhttp://www.glomerularcenter.orghttp://www.ncbi.nlm.nih.govhttp://www.genetests.orghttp://www.clinicaltrials.govshapeimage_5_link_0shapeimage_5_link_1shapeimage_5_link_2shapeimage_5_link_3shapeimage_5_link_4shapeimage_5_link_5
ALPORT FOUNDATION RESEARCH GRANTS The Alport Foundation of Australia supports all areas of research relevant to Alport Syndrome and related disorders. Contact us by email for information info@alport.org.aumailto:info@alport.org.aushapeimage_6_link_0
MEDICAL RESEARCH & CLINICAL TRIALS

Novel stem cell assays for Alport Syndrome

Project research grant awarded to CIs Ricardo and Kerr

by the Alport Foundation of Australia, May 2010.

The potential of stem cells represents one of the greatest opportunities in medicine. They are found in embryonic tissues and adult organs and have potential uses in therapies designed to repair and regenerate organs. Recently, scientists have discovered how to reprogram adult cells by introducing four regulatory genes causing them to lose their characteristic adult properties and behave more like embryonic stem cells. These cells termed inducible pluripotent stem cells, or iPS cells, become more immature in nature and can be maintained in a lab dish indefinitely. The establishment of iPS cell lines from patients with Alport Syndrome has an extraordinary potential for new drug discovery and personalized medicine. This is where the study of iPS cells lines could provide information about an individual patient to select or optimize that patient's preventative and therapeutic care. It will also enable us to understand Alport Syndrome in a way we've never been able to before, advancing the potential of human iPS cells for modelling the genetic disorder and for the screening of new drug compounds. Read more about Dr Ricardo.....

Dr Sharon Ricardo

Novel Chemical Treatments for Alport Syndrome

Project research grant awarded to J Savige by the

Alport Foundation of Australia, May 2010.

Alport syndrome is an inherited disease that results in progressive kidney failure, hearing loss and eye abnormalities. It is due to mutations in 3 genes that code for different collagen chains. These chains are normally intertwined to form a single molecule in basement membranes in the kidney, ear and eye. The different forms of Alport syndrome affect different chains. Each type results in the destruction not only of the corresponding mutant chain but also of the chains with which it is normally intertwined. Thus in Alport syndrome all 3 chains are missing from affected basement membranes. These membranes are consequently abnormal and weakened and the abnormal membranes result in the clinical features of kidney disease, hearing loss and ocular abnormalities.    

We know that some chemicals potentially inhibit the breakdown of the defective collagen chains  and we hypothesise persistence of even partly abnormal chains in the basement membranes will result in less severe disease. We have preliminary evidence that this is so. Here we seek funding to look at cell lines from patients with different kinds of mutations causing X-linked and autosomal recessive Alport syndrome to show these chemicals actually increase the amount of the collagen mRNA and protein. We will compare several chemicals and determine which is most effective in doing this. This approach is already being trialled in clinical studies in cystic fibrosis.

The only realistic treatments available for Alport syndrome currently focus on minimising proteinuria and delaying the onset of end-stage renal failure. The most commonly-used agents are angiotensin converting enzyme (ACE) inhibitors. The use of chemical chaperones and inhibitors of nonsense-mediate decay represents a new approach to the treatment of Alport syndrome. There are early clinical trials of some of these agents in cystic fibrosis and there is also hope they will be useful in neurodegenerative diseases (Chaudhuri 2006). The proposed project will provide proof of principle that chemical chaperones and inhibitors of nonsense mediated decay increase the amount of functional collagen IV a5 chain.

Professor Judy Savige

RESEARCH CURRENTLY FUNDED BY THE ALPORT FOUNDATION
READ THE PUBLISHED RESULTS OF THIS RESEARCH!ANNOUNCEMENTS.htmlANNOUNCEMENTS.htmlANNOUNCEMENTS.htmlshapeimage_10_link_0shapeimage_10_link_1shapeimage_10_link_2

AIRG-France 2012 -

Call for Research Project Proposals on Genetic Renal Diseases

The French Association for Information and Research on Genetic Renal Disease (AIRG-France) is launching its annual call for proposals to support research projects on "Genetic Renal Diseases" in the following areas: Pathophysiology, Diagnosis, Epidemiology or Treatment.
The call AIRG-France 2012 is focused on three genetic diseases as detailed below:
1.    Alport syndrome: The call is granted with a budget of € 120,000 over three years at a rate of € 40,000 per year to fund in 2012, 2013 and 2014 innovative projects targeting the disease (Ref. SA 2012 -14 AIRG-France).
2.    Autosomal recessive polycystic kidney disease (ARPKD): The call is granted with a budget of € 45,000 over three years at a rate of € 15,000 per year to fund in 2012, 2013 and 2014 innovative projects targeting the disease (Ref. PKR 2012-14 AIRG-France).
3.    Autosomal dominant polycystic kidney (ADPKD): The call is granted with a budget of € 30,000 over one year to fund innovative projects in 2012 and focused on the disease (Ref. 2012 PKAD AIRG-France).

For more information, contact the secretariat of the AIRG France: airg.permanence@orange.fr