Las retinopatías hereditarias (IR, inherited retinopathies en inglés) son un conjunto de enfermedades cuyo principal síntoma es la ceguera desde el nacimiento y su etiopatogenia es un error genético en alguno de los genes a partir de los cuales se obtienen las proteínas que intervienen en el complejo proceso de la visión a nivel retiniano. En este enlace de OMIM puede verse el numeroso cortejo de diversos tipos de IR´s.
En Genetics Home Reference habla de de la Amaurosis de Leber, uno de los tipos de IR´s:
Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia).
Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
Para solucionar los problemas debidos a la anomalía en el gen RPE65 (doble copia de gen anómalo) se ha diseñado Luxturna del que hemos hablado (aquí, aquí) y para solucionar los debidos al gen CEP290 se está en el proceso de experimentación con EDIT-101.
En este poster de EDITAS se describe las características del producto:
EDIT-101 is a therapeutic candidate designed to treat LCA10 patients that carry the most prevalent causative CEP290 mutation, c.2991+1655A>G in intron 26, abbreviated here as IVS26. EDIT-101 is an AAV5 vector packaged with DNA encoding the S. aureus Cas9 (SaCas9) protein, along with two guide RNAs. When expressed in photoreceptor cells, the dual gene editing machinery removes or inverts the IVS26 mutation and restores expression of the full length CEP290 protein. We expect this gene editing to improve photoreceptor function and bring clinical benefit to LCA10 patients harboring the IVS26 mutation
Sponsor: Allergan
Collaborator: Editas Medicine, Inc.
Estimated Study Start Date ICMJE June 3, 2019
Detailed Description: This is an open-label, single ascending dose study of AGN-151587 (EDIT-101) in adult and pediatric (ie, ages 3 to 17) participants with LCA10-IVS26. Approximately 18 participants will be enrolled in up to 5 cohorts to evaluate up to 3 dose levels of AGN-151587 in this study. AGN-151587 is a novel gene editing product designed to eliminate the mutation on the CEP290 gene that results in the retinal degeneration that defines LCA10-IVS26.
Le ruego evalúe la presente entrada asignando un valor de 1 a 5, de peor a mejor valorada, usando la opción de comentarios
En Genetics Home Reference habla de de la Amaurosis de Leber, uno de los tipos de IR´s:
Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia).
Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
Para solucionar los problemas debidos a la anomalía en el gen RPE65 (doble copia de gen anómalo) se ha diseñado Luxturna del que hemos hablado (aquí, aquí) y para solucionar los debidos al gen CEP290 se está en el proceso de experimentación con EDIT-101.
En este poster de EDITAS se describe las características del producto:
EDIT-101 is a therapeutic candidate designed to treat LCA10 patients that carry the most prevalent causative CEP290 mutation, c.2991+1655A>G in intron 26, abbreviated here as IVS26. EDIT-101 is an AAV5 vector packaged with DNA encoding the S. aureus Cas9 (SaCas9) protein, along with two guide RNAs. When expressed in photoreceptor cells, the dual gene editing machinery removes or inverts the IVS26 mutation and restores expression of the full length CEP290 protein. We expect this gene editing to improve photoreceptor function and bring clinical benefit to LCA10 patients harboring the IVS26 mutation
Sobre los Clinical Trials
El ensayo clínico con EDIT-101/AGN-151587, que es el primero autorizado en el que se utilice CRISPR, se denomina Single Ascending Dose Study in Participants With LCA10 . Algunas de sus características son:Sponsor: Allergan
Collaborator: Editas Medicine, Inc.
Estimated Study Start Date ICMJE June 3, 2019
Detailed Description: This is an open-label, single ascending dose study of AGN-151587 (EDIT-101) in adult and pediatric (ie, ages 3 to 17) participants with LCA10-IVS26. Approximately 18 participants will be enrolled in up to 5 cohorts to evaluate up to 3 dose levels of AGN-151587 in this study. AGN-151587 is a novel gene editing product designed to eliminate the mutation on the CEP290 gene that results in the retinal degeneration that defines LCA10-IVS26.
Le ruego evalúe la presente entrada asignando un valor de 1 a 5, de peor a mejor valorada, usando la opción de comentarios
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