More than 100 clinicians, researchers, patient organizations and pharmaceutical industry representatives from around the world came together in Göttingen, Germany last year for an International Workshop on Alport Syndrome. The aim of the three-day workshop, which covered clinical, genetic, and basic science aspects of the condition, was to encourage international collaborations to evaluate existing treatments and develop new ones.
The intensely discussed topics yielded eight priority areas. Now the findings have been summarized in an article titled “Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome” and published in the journal Nephrology Dialysis Transplantation.
The main priority areas were identified as follows:
- Understanding the crucial role of the protection and regeneration of podocytes, the specialized cells that wrap around the capillary blood vessels of the kidneys;
- Targeting the disease-causing mutations using new molecular techniques and gene therapy;
- Creating optimal interaction between kidney specialists and geneticists for the early diagnosis of the disease;
- Establishing standards and databases to identify disease-causing mutations;
- Improving widespread accessibility to current standards of clinical care for all Alport Syndrome patients;
- Improving collaboration with the pharmaceutical industry to develop new therapies;
- Research into hearing loss, an enormous unmet medical need in Alport syndrome patients;
- Evaluating the risk and benefit of novel therapies on an international basis, as well as repurposing existing drugs.
“Building upon accomplishments from 2014, the 2015 International Workshop on Alport Syndrome further consolidated interactions among the various stakeholder groups and addressed upcoming steps to move forward in the shared mission to find a long-term multi-target therapy for [Alport syndrome], resulting in a lifelong delay of [kidney] failure or even a cure,” first author of the article Oliver Gross, MD, PhD, of the University Medicine Göttingen in Germany, and colleagues wrote.
Alport Syndrome is a rare genetic disease affecting about 1 in 50,000 children. It is characterized by end-stage kidney disease and hearing loss. The disease, which also affects the eyes, is caused by mutations in type IV collagen, an important structural protein. Although some treatments may slow the progression of kidney failure, they do not completely stop it and new therapeutic targets and strategies are urgently needed.