Applying massive sequencing to identify mutated genes in hereditary eye diseases
An agreement between the University of Barcelona spin-off DBGen Ocular Genomics and the company Novartis España will enable the genetic identification of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) in affected patients. Hereditary retinal dystrophies are pathologies affecting more than 20,000 people in Spain and can be caused by more than 200 genes, 70 of which are […]
DBGen participates in the 9th Congress of the Pan American Retina and Vitreous Society (11/15-18/2022)
DBGen participates in the ninth congress of the Pan American Retina and Vitreous Society (SPRV) in Argentina with the presentation «Leber’s Congenital Amaneurosis by RPE65 in Argentina».
Update on phase III therapies for hereditary vision disorders
When discussing the treatment for prevalent disorders such as hypertension or asthma, hardly ever do we stop and consider the time and effort that are needed to move from the characterization of the pathology at the clinical level to the implementation of an effective therapy. Nevertheless, this long, highly regulated process is an unavoidable step […]
Encouraging advances in therapies for Leber congenital amaurosis
Editas Medicine CRISPR therapy for CEP290 gene Editas Medicine, a company specialising in the development of gene editing therapies, has announced the recruitment of paediatric patients to the Brilliance trial. This phase 1/2 clinical trial began last year and is based on the CRISPR gene editing methodology to excise the intron mutation c.2991+1655A>G, which produces an aberrant […]
A revolutionary CRISPR gene editing technique applied for the first time to a patient with a visual disorder
The patient, treated at the Casey Eye Institute in Portland, Oregon, belongs to a group of 18 people affected with Leber congenital amaurosis. These patients will participate in the BRILLIANCE study, the first clinical trial to determine the safety and efficacy of a therapy based on the CRISPR-Cas9 gene editing technique (AGN-151587, EDIT-101). It is the first […]
First gene therapy application of Luxturna in the UK
This February Moorfields Eye Hospital in London and Radcliffe Hospital in Oxford have started treating patients affected by Leber congenital amaurosis (LCA) with the Luxturna gene therapy. LCA is a childhood-onset severe retinal dystrophy, which causes irreversible blindness for which, until now, no treatment was available. Luxturna (voretigene neparvovec) is also the first gene therapy approved for […]
A race against the clock for Leber congenital amaurosis gene therapy
ProQR Sepofarsen therapy On July 29, the Dutch company ProQR announced that the European Medicines Agency (EMA) has granted access to the Agency’s priority medicine program (PRIME) to its Sepofarsen therapy (QR-110), designed for the treatment of Leber congenital amaurosis (LCA10), a childhood blinding disorder, caused by the c.2991+1655A>G (p.Cys998 *) mutation in the CEP290 gene. The […]
First CRISPR gene editing therapy for inherited visual disorders
On the 30th November EDIT-101, developed by Editas Medicine, received the approval from the Food and Drug Administration (FDA) to be the first in vivo CRISPR medicine administered to people anywhere in the world. EDIT-101. EDIT-101 is an experimental CRISPR genome editing medicine for the treatment of Leber Congenital Amaurosis (LCA, an inherited early-onset visual disorder that leads to infantile and juvenile blindness). Editas Medicine, […]
LUXTURNA, made available to European patients by Novartis
Spark Therapeutics enters into a licensing agreement with the big pharmaceutical company Novartis to commercialize LUXTURNA, the first gene therapy treatment approved for inherited retinal dystrophies, in Europe. LUXTURNA is addressed to patients suffering from Leber Congenital Amaurosis (LCA) caused by mutations in the RPE65 gene. This one-time gene therapy consists of a subretinal microinjection of therapeutic adenoassociated virus that contain a […]