# Gene Therapy for MPS IV A in a Novel Porcine Model of the Disease

> **NIH NIH R43** · RECOMBINETICS, INC. · 2024 · $384,999

## Abstract

Project Summary
This project centers on addressing the challenges posed by MPS IV A, a rare lysosomal storage disease
caused by a deficiency in the GALNS enzyme due to mutations in the GALNS gene. Existing treatments, such
as enzyme replacement therapy (ERT) and allogeneic hematopoietic stem cell transplantation (HSCT), fall
short in effectively managing the severe skeletal manifestations of this condition. To overcome these
limitations, the study aims to create a large animal model of MPS IV A and investigate the potential of gene
therapy as a more effective treatment approach.
The research comprises three key goals across two aims:
 1. Generating a Porcine Model of MPS IV A: Using previously generated GALNS knockout lines, a porcine
 model with GALNS deficiency will be made. The animals will be characterized for enzyme deficiency,
 accumulation of keratan sulfate, skeletal defects, and cardiac anomalies. This model will serve as a
 valuable tool for understanding the disease's biology and developing genetic therapies.
 2. Comparative Analysis of AAV and Lentiviral Gene Therapy: The research aims to assess the
 effectiveness of two gene transfer methods, adeno-associated virus (AAV) and lentiviral vectors, in
 treating MPS IV A in mouse models. This comparative study will provide insights into the potential of
 both approaches in preventing metabolic and skeletal diseases associated with MPS IV A.
 3. Advancing Genetic Therapies for MPS IV A: The project explores the novel approach of using
 autologous hematopoietic stem cells (HSCs) transduced with a lentiviral vector containing the human
 GALNS sequence to treat MPS IV A. This method offers the potential for high systemic levels of
 GALNS and may bypass the risks associated with allogeneic HSCT.
The outcomes of this research are expected to contribute significantly to understanding MPS IV A and
developing more effective therapies. The creation of a large animal model will enable researchers to closely
mimic human disease conditions, and the comparative analysis of gene therapy methods will inform future
treatment strategies. Overall, this work holds promise for improving the lives of individuals affected by MPS IV
A by advancing the development of gene therapeutics.

## Key facts

- **NIH application ID:** 11007850
- **Project number:** 1R43AR084639-01A1
- **Recipient organization:** RECOMBINETICS, INC.
- **Principal Investigator:** Jarryd Matthew Campbell
- **Activity code:** R43 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $384,999
- **Award type:** 1
- **Project period:** 2024-09-18 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11007850

## Citation

> US National Institutes of Health, RePORTER application 11007850, Gene Therapy for MPS IV A in a Novel Porcine Model of the Disease (1R43AR084639-01A1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/11007850. Licensed CC0.

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