Breakthrough in gene therapy: medical center's neurological researchers lead pioneering work, potentially revolutionizing treatments for muscle disorders
The University of Rochester Medical Center (URMC) has been at the forefront of neuromuscular research, with renowned researchers like Robert Griggs, Richard Moxley, and Charles Thornton contributing significantly to the study and understanding of muscular dystrophies. While specific details about their contributions to Myotonic Dystrophy Type 2 (DM2) may not be explicitly stated, their collective expertise and URMC's strong research environment suggest a significant role in the broader understanding and study of this genetic disorder.
Myotonic Dystrophy Type 2, first described in 1994, is a genetic disorder characterised by muscle stiffness (myotonia), wasting, and other symptoms. It involves expansions of CCTG repeats in the CNBP gene. Research into DM2 involves understanding its genetic basis, improving diagnostic methods, and developing treatments.
Robert Griggs, known for his extensive work in neuromuscular diseases, has been involved in numerous studies and clinical trials related to muscular dystrophies. His work has likely encompassed aspects of DM2, given the broad scope of his research. Richard Moxley, who has contributed significantly to the field of neuromuscular diseases, focusing on clinical aspects and treatment strategies, could have also been involved in studies related to DM2. Charles Thornton, recognised for his work on the genetic and molecular mechanisms of myotonic dystrophies, has been involved in research aimed at understanding the pathogenesis of these diseases, which could include specific studies on DM2.
In addition to these researchers, Robert T. Dirksen, who works at URMC, is involved in research on muscular dystrophies, focusing on disease mechanisms and treatment advancements. His work underscores the robust research environment at URMC that could support studies on various muscular dystrophies, including DM2.
The discovery of DM2 took place in the 1970s and was the product of neuromuscular clinical and research programs led by Moxley and Griggs. Today, URMC continues to be instrumental in creating global research networks, partnerships with the patient community, and research tools necessary to study DM2 and advance new treatments.
One such development is the treatment regime of recombinant human growth hormone and testosterone, shown safe and effective in Facioscapulohumeral Dystrophy (FSHD), which may also benefit patients with DM2 and other neuromuscular disorders, according to Chad Heatwole. Heatwole's team has developed over 160 regulatory-grade, disease-specific PROs used by researchers worldwide, including a patient reported outcome (PRO) measure for DM2 developed in 2012. This PRO tool may be used in a new study involving recombinant human growth hormone and testosterone as a therapy for DM2.
Future treatments for myotonic dystrophy are expected to consist of cocktail therapies, and remote studies allow researchers to connect with study participants via video conferences, ship them appropriate devices that measure function, collect genetic information, and improve the sensitivity of biomarkers. This innovative approach to research is helping to advance the study and approval of genetic therapies for neuromuscular disorders, with URMC researchers at the centre of these efforts.
In 2019, the FDA approved a new gene therapy that helps re-establish muscle control in children with Spinal Muscular Atrophy (SMA), and the results from the EMBARK study for a gene therapy for Duchenne muscular dystrophy (DMD) are expected by the end of the year. These advancements underscore the promise of genetic therapies in treating neuromuscular disorders, and URMC's role in this exciting field.
The National Registry for Myotonic Dystrophy & Facioscapulohumeral Dystrophy, created in 2000, is a detailed database of over 2,600 people with these conditions and has been an invaluable research tool. However, many questions about myotonic dystrophy remain unanswered, and only a small fraction of people with this disease are involved in research. As the field of neuromuscular research continues to evolve, the work of researchers at URMC will undoubtedly continue to contribute significantly to our understanding and treatment of these complex disorders.
- The University of Rochester Medical Center (URMC), known for its work in neuro-muscular research, could be conducting clinical trials for Cancer, as they have shown a strong interest in understanding and treating various medical-conditions, including neurological-disorders like Myotonic Dystrophy Type 2 (DM2).
- Science and health-and-wellness enthusiasts might find the research conducted at URMC, particularly in relation to DM2, fascinating, given that this disorder is also associated with space-and-astronomy due to its potential for impacting muscle control and overall body function, which are crucial for space travel.
- As researchers at URMC continue to delve into the intricacies of myotonic dystrophies, their efforts could contribute significantly to the understanding and management of not only DM2, but also other medical-conditions that share similar genetic or molecular mechanisms, such as certain neurological-disorders or even diseases beyond the realm of health-and-wellness, such as science-related disorders or even cancer.
