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Our goal is to find treatment by funding targeted research and support studies that pave the way for regulatory approval.

ACTIVE RESEARCH STUDIES

DRUG REPURPOSING FOR THE TREATMENT OF NEB NEMALINE MYOPATHY 
Dr. Bryson-Richardson’s project continues a previously funded project that tested a total of 1,443 FDA-approved drugs on NM-affected fish. This endeavor focuses on 20 drugs that demonstrated a positive effect on the fish. The team will find the most effective non-toxic dose, perform tests on long-term survival and muscle functionality and, going the extra mile, test two treatment regimes 1) beginning from birth, and 2) commencing after the onset of disease symptoms to more closely mimic the situation in patients. This final aim will help to determine if treatment can either prevent or delay the loss of function or restore function, respectively.
Institution: Monash University
Investigator: Robert Bryson-Richardson, MD
EFFECT OF MYOSTATIN INHIBITION ON MUSCLE SIZE AND MUSCLE FUNCTION IN A NOVEL MOUSE MODEL OF TYPICAL NEMALINE MYOPATHY
Myostatin is a material in the body that prevents overdevelopment of muscles. Because NM-affected individuals often have small and/or weak muscles, Dr. Granzier’s team will use an antibody-based myostatin inhibitor — with an already proven safety profile in humans — to induce muscle growth in a new clinically relevant mouse model of nemaline myopathy (also created with AFBS support). In pilot studies at Dr. Granzier’s lab, the myostatin inhibitor increased body weight and muscle size by ~20% in diseased mice. They will now assess the effect of the myostatin inhibitor on muscle mechanics, force, size, and strength. A successful study would suggest inhibition of myostatin as a possible therapy for nemaline myopathy. Additionally, Dr. Granzier’s team will perform gene therapy studies, testing the effects of expressing a muscle-maintaining protein that interacts with nebulin. With greater amounts of this protein, the team anticipates a delay in the loss of nebulin and preservation of muscle functionality.
Institution: University of Arizona
Investigator: Henk Granzier
CORRECTING MUSCLE FUNCTION IN NEMALINE MYOPATHY BY MUTATION INDEPENDENT APPROACHES
Dr. Gupta’s team will attempt to improve muscle function by testing two different approaches with the potential to help different forms of nemaline myopathy, independently of the specific genetic mutation. Therefore, these therapies would potentially benefit a wider group of patients in the NM community. 1) During experimentation on NM animal models (fish and mouse models) supported by AFBS, Dr. Gupta’s group identified an abnormal accumulation of a specific protein in muscle. With an intention to revert this accumulation, the team aims to improve skeletal muscle structure and motor function using genetic tools and small molecules. The team will also assess the potential benefits and risks of gene therapy for nemaline myopathy in an NM mouse model.
Institution: Brigham and Women’s Hospital
Investigator: Vandana Gupta, MD
TESTING NOVEL GENETIC THERAPIES FOR ACTA1 NEMALINE MYOPATHY (NEM3) – HARNESSING PATIENT CELLS
In order to develop a treatment, a safe way to evaluate potential interventions is needed before they are given to patients. Dr. Taylor’s research team will use skin or blood cells provided by NM-affected patients to create a cell-based resource (iPSCs) that can be used to safely and thoroughly test two new possible treatments for ACTA1 Nemaline Myopathy affected individuals (NEM3). 1) Use of s CRISPR/Cas9 techniques to ‘knockout’ dominant ACTA1 mutations without harming the normal copy and 2) Investigate gene “replacement” in both dominant and recessive NEM3. Dr. Taylor’s team will use experimental genetic tools to provide the cell with instructions for “turning on” an alternative version of the skeletal muscle actin gene – the heart actin gene. The idea is to provide the cell with a similar protein that can perform the same function as the defective protein.
Institution: University of Western Australia
Investigator: Nigel Lang and Rhonda Taylor
UNCOVERING THE MECHANISM OF MYOSIN DYSFUNCTION IN NEMALINE MYOPATHY – A POTENTIAL TARGET FOR THERAPY
Mutations in many of the nemaline myopathy genes lead to similar effects at the myofiber level. Interestingly, despite differences in the causative gene, the myosin binding to actin filaments (both are proteins) is often disrupted. The main function of myosin molecules in skeletal muscle is to produce force and motion. This study aims to uncover how myosin is dysregulated in nemaline myopathy. Achieving this would increase the speed of developing efficient therapeutic interventions.
Institution: Folkhälsan Research Center
Investigator: Katarina Pelin

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