8 results about "Stargardt disease" patented technology

The present invention is characterized by nucleic acid trans-splicing molecules (e.g., pre-mRNA trans-splicing molecules (RTMs)) capable of correcting one or more mutations in the ABCA4 or CEP290 genes. Such molecules can be used to treat conditions associated with ABCA4 mutations, such as Stargardt disease (e.g., Stargardt disease 1), and conditions associated with CEP290 mutations, such as Leber congenital amaurosis 10 (LCA 10). The invention also provides methods for using nucleic acid trans-splicing molecules to correct mutations in ABCA4 and CEP290, and for treating conditions associated with mutations in ABCA4 and CEP290, such as Stargardt disease and LCA 10.

The present invention relates to methods and compositions for editing an ABCA4 polynucleotide, e.g., an ABCA4 polynucleotide comprising a SNP associated with Stargardt Disease, type 1. The invention also relates to methods and compositions for treating or preventing Stargardt Disease, type 1, in a subject.

Disclosed herein are compositions and methods for treating ocular diseases in mammals, and particularly complications associated with fundus yellow spot disease. The present disclosure provides an AAV-based dual vector system that promotes expression of a full-length protein having a coding sequence that exceeds the polynucleotide packaging capacity of a single AAV vector. In particular, described herein are methods and compositions relating to the expression of full length ABCA4 using an AAV-based dual vector system.

Provided herein is a composition or a method for expression of a human ABCA4 protein. Also provided herein is a method of treating Stargardt disease.

Compositions and methods for editing a pathogenic ATP-binding cassette, subfamily A, member 4 (ABCA4) polypeptide-encoding gene using an adenosine deaminase base editor to treat a congenital eye disorder, such as Stargardt disease. In various embodiments, the disclosure provides methods for altering a nucleobase (e.g., c.4139T) in an ABCA4 gene codon 1380 encoding a pathogenic leucine so that the codon is altered to encode a proline. In some embodiments, the disclosure provides methods for altering a pathogenic c.5714+5A intronic nucleotide of anABCA4 gene so that the nucleotide becomes c.5714+5G.

The present invention features nucleic acid trans-splicing molecules (e.g., pre-mRNA trans-splicing molecules (RTMs)) capable of correcting one or more mutations in the ABCA4 gene or the CEP290 gene. Such molecules are useful in the treatment of disorders associated with mutations in ABCA4, such as Stargardt Disease (e.g., Stargardt Disease 1) and disorders associated with a mutation in CEP290, such as Leber congenital amourosis 10 (LCA 10). Also provided by the invention described herein are methods of using the nucleic acid trans-splicing molecules for correcting mutations in ABCA4 and CEP290 and for treating disorders associated with mutations in ABCA4 and CEP290, such as Stargardt Disease and LCA 10.

Provided herein are nucleic acid trans-splicing molecules (e.g., pre-mRNA trans-splicing molecules (RTMs); RNA exon editing molecules) capable of correcting mutations in the ABCA4 gene. Such molecules are useful in the treatment of disorders such as ABCA4-associated retinal dystrophies (e.g., Stargardt Disease or cone-rod dystrophy). Also described herein are methods of using the nucleic acid trans-splicing molecules described herein to correct mutations in ABCA4, thereby treating disorders associated with mutations in ABCA4 and use of the nucleic acid trans-splicing molecules described herein for treating disorders associated with mutations in ABCA4 and in the preparation of medicaments for the treatment of disorders associated with mutations in ABCA4.

Aspects of the disclosure relate to compositions and methods useful for delivering minigenes to a subject. Accordingly, the disclosure is based, in part, on isolated nucleic acids and gene therapy vectors, such as viral (e.g., rAAV) vectors, comprising one or more gene fragments encoding a therapeutic gene product, such as a protein or peptide (e.g., a minigene). In some embodiments, the disclosure relates to gene therapy vectors encoding a ABCA4 protein (e.g., the gene product of ABCA4 gene) or a portion thereof. In some embodiments, compositions described by the disclosure are useful for treating diseases associated with mutations in the ABCA4 gene, for example Stargardt disease.