A gene therapy to correct a mutation that causes maple syrup urine disease prevented newborn death and normalized growth in a calf as well as in mice.

About OPGx-LCA5 OPGx-LCA5 is designed to address a form of Leber congenital amaurosis (LCA) due to biallelic mutations in the LCA5 gene (LCA5), which encodes the lebercilin protein. LCA5 ...

ENPP1 Deficiency is an autosomal recessive disease and biallelic mutations are estimated to occur in approximately 1 in 64,000 pregnancies worldwide. Many individuals with just one copy of the ...

A patient with biallelic TP53 mutations and a complex karyotype obtained CR. The third FLT3-WT patient experienced significant reductions in bone marrow leukemic blasts during Cycle 1 and remains ...

Retinal dystrophy caused by biallelic variants in the AIPL1 gene ... Four children aged 1.0 to 2.8 years with confirmed AIPL1 mutations received a subretinal injection of rAAV8.hRKp.AIPL1 in ...

we help ensure that more patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy who live outside the U.S., and importantly outside of Europe, have access to investigational ...

Last month an FDA advisory committee voted unanimously in favour of approval for voretigene neparvovec (to be named Luxturna) for patients with confirmed biallelic RPE-mediated inherited retinal ...

Phase 1/2 Trial Design This clinical trial was designed to evaluate the safety and preliminary efficacy of subretinal gene therapy with OPGx-LCA5 in patients with inherited retinal degeneration due to ...

Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment. However, even among patients with the same mutation, disease progression and ...