Research

cureEDMD funding is currently focused on two research areas:

• Finding a mechanism, or “target”, in skeletal or cardiac muscle cells that could be influenced by a therapeutic drug and then searching for a drug that has already been FDA-approved for another indication that addresses the target.  While there is no guarantee such a drug, or combination of drugs, can be found, this is a much quicker and less costly approach than trying to develop a new drug.

Significant progress has already been made on this approach, facilitated by cureEDMD-associated funding, to the point that drugs may be screened for efficacy within the next few years.  More broadly, processes for screening for existing drugs that help against disease targets are advancing, including through use of artificial intelligence (AI) techniques. 

• Gene therapy for EDMD.  By replacing or repairing the gene that is missing or defective it might be possible to treat or, if done early enough, even cure the disease.  Gene therapy research is very costly, but gene therapy for EDMD can benefit from all of the work that has already been done for other muscle diseases, including Duchenne muscular dystrophy.  Fortunately the defective EMD gene in X-linked EDMD, which encodes for emerin, is very small at only about 1200 base pairs, and can easily fit into existing delivery vectors already developed for other diseases. For autosomal dominant EDMD caused by LMMA gene mutations, repairing the gene will more likely be required.

The Parent Project for Muscular Dystrophy has a good primer on gene therapy .  It is very Duchenne focused, as is everything they do, but a lot of it applies to any muscle disease.  The problems they mention with the very large size of the Duchenne gene do not apply to EDMD.

Another approach would be to try to develop a new drug that addresses targets identified in EDMD.  This could include targets downstream of the implicated genes themselves. This might have a higher probability of success than searching for existing drugs that are effective, but it is very costly (probably $10 million or more) and most likely very time consuming, on the order of several years at least even with sufficient funding.  cureEDMD intends to seek or help motivate such funding once reasonably high-probability disease targets are identified.

It is possible that a drug that is effective in EDMD would also help in related diseases such as limb-girdle muscular dystrophy, due to similar disease mechanisms.  This might increase the interest of an existing pharmaceutical or biotech company, or a self- or capital-markets-funded startup, to pursue a therapeutic drug for EDMD.

cureEDMD is currently focused on helping to fund the labs and work of these eminent researchers:

Jan Lammerding is a professor in the Meinig School of Biomedical Engineering and the Weill Institute for Cell and Molecular Biology at Cornell University.  He was appointed as the Associate Director of the Meinig School of Biomedical Engineering in 2024.  He obtained a Diplom Ingenieur degree in Mechanical Engineering in his native Germany and a Bachelor of Engineering degree from the Thayer School of Engineering at Dartmouth College. Subsequently, he completed his Ph.D. in Biological Engineering at the Massachusetts Institute of Technology studying subcellular biomechanics and mechanotransduction signaling with Drs. Roger Kamm and Richard T. Lee (Brigham and Women’s Hospital/Harvard Medical School). Following a brief postdoctoral fellowship in Dr. Lee’s laboratory, he started his faculty career at Harvard Medical School/Brigham and Women’s Hospital while also teaching in the Department of Biological Engineering at the Massachusetts Institute for Technology before joining Cornell University in 2011.

Dr. Lammerding has published over 100 peer-reviewed articles, including in Nature, Science, and PNAS. He has won several prestigious awards, including the Keith Porter award of the American Society for Cell Biology (ASCB) for exceptional contributions to cell biology, a National Science Foundation CAREER Award, and the American Heart Association Scientist Development Grant. He was named one of the 2014 Young Innovators by the Cell and Molecular Bioengineering Journal. Dr. Lammerding is a Fellow of the Biomedical Engineering Society (BMES), the American Institute for Medical and Biological Engineering (AIMBE), and the American Society for Cell Biology (ASCB). The research in the Lammerding laboratory is supported by grants from the National Institutes of Health, the National Science Foundation, the Leducq Foundation, and the Volkswagen Foundation. 

The Lammerding laboratory at Cornell University is researching the cellular functions affected by emerin and lamins , the nuclear-lamina proteins that are missing or faulty in EDMD, with the goal to identify novel therapeutic strategies to intervene in the mechanisms responsible for EDMD to treat the disease.  One promising area of the lab’s research is called “LINC complex disruption”.  The Linker of Nucleoskeleton and Cytoskeleton (LINC) complex is a large multi-protein structure that physically connects the cell nucleus with the surrounding cellular structures.  The lab has found that disrupting the LINC complex shows very promising improvements in muscle function both in laboratory-cultured diseased muscle cells and in mouse models of EDMD (i.e., mice genetically engineered to have similar mutations as in human EDMD patients, thereby serving as ‘preclinical’ models to study the disease and to test new treatment approaches).  In collaboration with researchers at Stanford University, the University of Pennsylvania, Duke University and the Institute of Myology/INSERM (Paris, France), supported in part through Networks of Excellence funded by the Leducq Foundation, the Lammerding lab is working to identify drugs that can target the LINC complex or achieve similar benefits as LINC complex disruption.

In parallel, the Lammerding lab is exploring additional treatment approaches that could substitute or complement LINC complex disruption to result in even more effective improvements. As this work progresses, the lab is investigating whether existing, FDA-approved drugs could be used off-label to help EDMD patients.

The work of the Lammerding Lab has real potential to benefit EDMD patients in the coming years and is therefore a high priority for cureEDMD. Based on our current understanding of the disease mechanism, there is good reason to believe that any therapeutic progress on EDMD might also provide benefit for other laminopathies, including limb-girdle muscular dystrophy, congenital muscular dystrophy, and LMNA-associated dilated cardiomyopathy.