FEDERG referent and contact person
Alport syndrome is a rare disease characterized by the association of a nephropathy progressing toward end stage renal failure, a sensorineural deafness and ocular defects. Visibly bloody urine and protein in the urine are common features of this condition. The disorder was first identified in a British family by University of Edinburgh Medical School graduate Cecil A. Alport in 1927.
It is associated with mutations in one of the three genes encoding the a3, a4, and a5 chains of type IV collagen, which form a distinct network in some basement membrane. AS is heterogeneous at several levels: clinically, genetically, and morphologically.
The frequency is estimated to 1:5,000 in X-chromosomal and 1:50,000 in autosomal disease. Alport-children are usually diagnosed early with low-grade proteinuria. Renal failure can be delayed by angiotensin-converting-enzyme-inhibitor (ACE) therapy.
More information on AS
Associations, member of FEDERG
ENGLISH ASUK www.alportuk.org
FRENCH AIRG-France www.airg-france.fr/archives/1279
AIRG Belgium www.airg-belgique.org
AIRG –Switzerland www.airg-suisse.org
SPANISH AIRG-Spain airg-e.onmedic.org
GERMANY German Group www.alport-selbsthilfe.de
On going Research Projects
Early protect-trial: On the basis of success met earlier in showing that the use of ACE inhibitors are delaying the onset of ESRD, Pr. Gross (Goettingen Germany) has initiated a follow up project aiming at further anticipating the use of ACE-I and start the nephron-protection strategy before reaching the first clinical symptoms.
More Information: www.alport.de/EARLY_PRO-TECT.html
Contact: Prof. Oliver Gross
Athena: Regulus Therapeutics is a bio-company developing new type of therapy based on Micro-RNA. They are currently proposing to carry out a natural study of Alport Syndrome patients, to advance the knowledge on the disease and prepare for possible future trial see website: www.regulusrx.com
International Meetings & Events
Göttingen, Germany, 25-27 September 2015:
International Workshop on AS. The follow up of the Oxford workshop to be held at the University of Prof. O. Gross.
More Information: Download program-leaflet:
Oxford 2014: SHINING LIGHT on AS. This workshop, 15 years after previous one, aimed at strengthening the worldwide community of patients, researchers, clinicians and Pharmas, and initiating a new strategy for research based on the latest on Genomics, bio-cellular approach. Research projects, development of international registry are the concrete outcomes of the workshop.