Current Neutral Lipid Storage Disease with Myopathy Research

Gabby's Wonderful World is helping to fund current research projects worldwide for Neutral Lipid Storage Disease with Myopathy. The goal of these projects are to develop treatments and a cure for patients with NLSD-M.

The Martin Lab is dedicated to the development of novel gene therapy treatments for patients with a variety of neurological, neuromuscular and lysosomal storage disorders. The lab has pioneered dual gene AAV therapies to both replace lost gene function and rebuild lost muscle mass and strength in forms of muscular dystrophy and myopathy. The lab is working on a gene therapy to treat Neutral Lipid Storage Disease with Myopathy (NLSD-M).

Gene Therapy for Neutral Lipid Storage Disease with Myopathy (NLSD-M)

The goal of this research project in the Martin lab is to develop and test a potentially curative gene therapy treatment for patients with NLSD-M, and then to translate that gene therapy to the clinic for patients.

Research will first involve optimizing a human gene therapy to treat NLSD-M by testing various promoters, enhancers, and AAV serotypes to identify a medicine that can be used safely and effectively at a very low dose. Proof of concept and safety studies will be done on this human gene therapy with the goal of translating this therapy to the clinic for NLSD-M patients. Tests of the efficacy of gene therapy to reverse lipid build-up and disease symptoms will be done in cells from patients and in a mouse model of the disease.

The first year of this project has been funded by a generous gift from the Reisenauer Precision Medicine Fund to the Center for Gene Therapy at Nationwide Children’s Hospital.

https://www.nationwidechildrens.org/research/areas-of-research/center-for-gene-therapy/martin-lab

The Morava-Kozicz lab at the Department of Genetics and Genomic Medicine at Icahn School of Medicine at Mount Sinai, NY focuses on rare inborn errors of metabolism. Dr Morava was one of the physician scientists who initially described the novel Neutral Lipid Storage phenotype and discovered the role of the underlying PNPLA2 gene in 2007 (Fischer et al). Since then, she has been involved in the clinical care of several patients. The Morava-Kozicz lab has been evaluating patient fibroblast cell-lines for metabolic changes, including lipid and energy metabolism, and assessing the potential benefit of different repurposed drug targets in vitro and their translation to in vivo.

Project Title: Advanced Genomic Analysis and Transcriptomic Profiling for NLSD-M

Overview: The Foundation is currently collaborating with experts in computational biology to conduct a deep-dive analysis of Neutral Lipid Storage Disease with Myopathy (NLSD-M). By utilizing state-of-the-art RNA sequencing technology, this project aims to map the unique cellular signatures of the disease.

Our goal for the project is to identify specific gene expression patterns that characterize NLSD-M from patient cells. In the future, we may be able to leverage advanced bioinformatics to apply the derived signature(s) to identify compounds that could potentially modulate dysregulated pathways and mitigate the impacts of lipid storage imbalances.

As of early 2026, the sequencing phase is complete. The project has moved into the data analysis stage, where bioinformaticians are currently processing the transcriptomic data to describe the signature of expression for NLSD-M.

Gabby's Wonderful World is helping to fund current research projects worldwide for Neutral Lipid Storage Disease with Myopathy. The goal of these projects are to develop treatments and a cure for patients with NLSD-M.

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