- The ASTOR registry has increased to over 160 families
- More than fifty pediatric nephrologists are signed on to collaborate with the ASTOR project
- The enrollment for boys in the microalbuminuria (MA) study is rapidly reaching its target enrollment of 30 - 40.
- Collaborations have been established with Jie Ding in Beijing and Christoph Licht in Toronto to expand the MA study
- Dr. Licht has joined ASTOR's steering committee.
Scientific Research Projects
Creation of an Alport Gene Chip
A list of collagen IV mutations has been created, along with a list of inflammatory and fibrotic genes that may contribute to kidney damage and failure. The chip will be assembled commercially, and we will be in a position to start validating the gene sequences shortly after that. Once that has taken place we will test the chip in Alport patients and carry out an epidemiological study.
NIH Grant Award
Dr. Billy Hudson (Vanderbilt University) has been awarded $6.5 million by NIH to support a program of work on collagen biochemistry and function, including the consequences of specific mutations. Dr. Hudson spoke about his pioneering studies on collagen matric synthesis and its disruption in Alport Syndrome at the workshop in January 2008. Dr. Hudson is also keen to create a new mouse model of Alport Syndrome that may better reflect the disease in patients with Collagen IV Alpha 3 mutations.
Integrated Research Program
The program of research has been developed to integrate with existing programs, such as ASTOR and Dr. Hudson's work. There will be leverage and cooperation between these programs, with funding directed at specific questions using the concept of 'the best science in the best laboratories'. The building of that network is in progress and will accelerate our knowledge and understanding of the cause and progressing of Alport Syndrome.
Scientific Meetings
- American Society of Nephrology Annual Meeting (Philadelphia, Nov. 2008). Dr. Kashtan submitted an abstract describing ASTOR's activities. Dr. Kashtan and Dr. Billy Hudson were invited speakers in a symposium on Collagen Nephropathies.
- Drs. Kashtan and Licht will be meeting with the Canadian Association of Pediatric Nephrologists to encourage their participation in ASTOR, and with Dr. Oliver Gross to continue therapeutic trial planning.
- Dr. Kashtan will be speaking about Alport Syndrome at the 36th Pediatric Nephrology Seminar, sponsored by the University of Miami, Feb 29 - Mch 1, 2009.
- Dr. Kashtan has also been invited to five nephrology grand rounds on Alport Syndrome at John Hopkins University during Fall 2008.
- The 15th Congress of the International Pediatric Nephrology Association will be held at the New York Hilton Aug 29 - Sep 2, 2010. Dr. Kashtan is on the Scientific Committee for the Congress, and will be organizing a symposium/workshop on Alport Syndrome.
Outcomes of the Alport Syndrome Workshop
One of the immediate outcomes of the workshop held in early 2008 has been increased communication between participants. This is important in the development of the registry and for the exchange of scientific ideas. To quote Dr. Kashtan, "These new collaborations are a direct consequence of the Alport Workshop. The workshop served to open doors and establish new relationships".
Dissemination of the science discussed at the workshop is important. The presentations at the workshop were recorded, and a transcript has been prepared. The final workshop report will be submitted for publication, so that a wider scientific audience can share the discussions. Also, a version will be posted on the Mendez National Institute of Transplantation and ASTOR websites.