Researching Diagnosis, Treatment & Cure
The Alport Syndrome Research Program consists of four major areas:
- diagnosis and epidemiology
- Alport patient registry
Gene Chip for Diagnosis and Epidemiology
The detection of collagen IV gene mutations is difficult. Absolute diagnosis is important, because the severity and progression of the disease varies with genotype. Genetic counseling of patients and their families is dependent upon a proper screening methodology.
The distribution of Alport gene mutations in the general population is unknown, but Alport gene mutations could account for hearing loss in older patients on renal transplant waiting lists.
The MNIT proposed to develop a ‘gene chip’, on which the hundreds of Alport mutations are arrayed. This will allow for rapid and complete diagnostic testing of patients and will enable epidemiological studies of the general population.
MNIT's Creation of an Alport Gene Chip
A list of collagen IV gene 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 the MNIT will soon begin validating the gene sequences. Then the chip will be tested on the Alport patients and epidemiological study(s) will be conducted.
Alport Syndrome Patient Registry
In rare disease conditions, accumulating sufficient patients to carry out meaningful and statistically valid research is essential. Professor Clifford Kashtan, M.D. has recently established the Alport Syndrome Treatment and Outcomes Registry (ASTOR) to create a database of Alport families that is useful in requesting participation for clinical trials.