Raav9-mediated gene therapy for ZNF526 deficiency in neurodevelopmental disorders
This breakthrough rAAV9-mediated gene therapy aims to stabilize or reverse Dentici-Novelli neurodevelopmental syndrome by addressing the underlying genetic defect of ZNF526 deficiency. Utilizing optimized systemic delivery, this approach is validated in preclinical mouse models.
Overview
This innovative gene therapy solution targets ZNF526 deficiency, a genetic cause of Dentici-Novelli neurodevelopmental syndrome (DENNED). By employing a recombinant adeno-associated virus serotype 9 (rAAV9) vector, the therapy delivers a functional copy of the ZNF526 gene directly to affected cells. This approach aims to stabilize or reverse the progression of DENNED by correcting the underlying genetic defect, offering a potential therapeutic strategy for a disorder that currently lacks effective treatments.
Technical specifications
Key features:
- Utilizes a systemic rAAV9 delivery vector for targeted gene therapy.
- Includes a specially developed ZNF526 promoter to enhance gene expression in relevant tissues.
- Developed two mouse models: one with a pathogenic variant and another with a floxed allele for comprehensive preclinical testing.
- Assesses efficacy through histological, molecular, and phenotypic analyses including behavioral tests and symptom evaluation.
- Focuses on minimizing off-target effects to optimize treatment safety and efficacy.
Technology readiness level
Currently at Technology Readiness Level 3. The approach has been demonstrated in preclinical mouse models, with comprehensive characterization and testing underway to validate efficacy and safety.
About University of Massachusetts Medical School
A public academic health sciences center within the University of Massachusetts system, it combines medical education, graduate training, and patient care with a strong research enterprise. Close integration with a major hospital system enables access to diverse patient populations, clinical data, and translational infrastructure, supporting industry‑sponsored studies and real‑world evaluation. Co‑located research core facilities and centralized contracting, IRB, and compliance support streamline collaboration, from early discovery through multicenter trials. The institution attracts significant NIH funding and competitive awards from other federal agencies and foundations. A dedicated technology transfer office manages IP, material transfer and licensing, and supports startup formation and corporate research agreements.
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