Wednesday, April 7, 2010
The results have finally come in on Myles's genetic testing. Although he does not qualify for gene therapy that is currently being conducted there is hope. I found this on the LCA Blog
Saturday, August 29, 2009
finally exciting news to share. A study has just been publish demonstrating
that gene therapy works in mouse models of LCA caused by mutations in the
AIPL1 gene! The conclusions of the authors are very encouraging, as they
recommend the technique to be used in human trials! AIPL1 is the 4th gene for which gene therapy has been shown to work,
together with RPE65 (for which studies are continuing and growing on
humans!) and Gucy2D and RPGRIP on animals.
Here is the abstract from Medline
Gene Ther. 2009 Aug 27. [Epub ahead of print]
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.
Sun X, Pawlyk B, Xu X, Liu X, Bulgakov OV, Adamian M, Sandberg MA, Khani SC, Tan MH, Smith AJ, Ali RR, Li T.
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is required for the biosynthesis of photoreceptor phosphodiesterase (PDE). Gene defects in AIPL1 cause a heterogeneous set of conditions ranging from Leber's congenital amaurosis (LCA), the severest form of early-onset retinal degeneration, to milder forms such as retinitis pigmentosa (RP) and cone-rod dystrophy. In mice, null and hypomorphic alleles cause retinal degeneration similar to human LCA and RP, respectively. Thus these mouse models represent two ends of the disease spectrum associated with AIPL1 gene defects in humans. We evaluated whether adeno-associated virus (AAV)-mediated gene replacement therapy in these models could restore PDE biosynthesis in rods and cones and thereby improve photoreceptor survival. We validated the efficacy of human AIPL1 (isoform 1) replacement gene controlled by a promoter derived from the human rhodopsin kinase (RK) gene, which is active in both rods and cones. We found substantial and long-term rescue of the disease phenotype as a result of transgene expression. This is the first gene therapy study in which both rods and cones were targeted successfully with a single photoreceptor-specific promoter. We propose that the vector and construct design used in this study could serve as a prototype for a human clinical trial.
PMID: 19710705 [PubMed - as supplied by publisher
I haven't had time to do much research and we have not met with the specialist to go over the results yet, but so far it doesn't look like he is