Delving into the Latest Updates on AAV9-ABE gene therapy with Synapse

Overview

Basic Info

Drug Type

Gene editing

Synonyms-

Target

SMN2

Action

modulators

Mechanism

SMN2 modulators(Survival motor neuron protein modulators)

Therapeutic Areas

Nervous System DiseasesOther Diseases

Active Indication

Spinal Muscular Atrophy

Inactive Indication-

Originator Organization

The Broad Institute, Inc.

Active Organization

The Broad Institute, Inc.

Inactive Organization-

License Organization-

Drug Highest PhasePreclinical

First Approval Date-

Regulation-

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved therapies circumvent endogenous SMN regulation and require repeated dosing or may wane. We describe genome editing of SMN2 , an insufficient copy of SMN1 harboring a C6>T mutation, to permanently restore SMN protein levels and rescue SMA phenotypes. We used nucleases or base editors to modify five SMN2 regulatory regions. Base editing converted SMN2 T6>C, restoring SMN protein levels to wild type. Adeno-associated virus serotype 9–mediated base editor delivery in Δ7SMA mice yielded 87% average T6>C conversion, improved motor function, and extended average life span, which was enhanced by one-time base editor and nusinersen coadministration (111 versus 17 days untreated). These findings demonstrate the potential of a one-time base editing treatment for SMA.

100 Deals associated with AAV9-ABE gene therapy

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