Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

ConclusionThere is no evidence to support exclusion of CHM patients from clinical trials based on their genotypes or any potential genotype–phenotype correlations. Choroideremia is an X‐linked inherited retinal degeneration that causes nyctalopia, progressive loss of visual fields leading to loss of central visual acuity. This natural history study describes the onset and progression of these factors with respect to age and causative mutation in the CHM gene. No genotype–phenotype correlations existed within this study suggesting all genotypes could be included in future clinical trials of gene therapy in choroideremia.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research