The Muscular Dystrophy Association (MDA) announced the awarding of 26 new MDA grants totaling more than $7.5 million toward research focused on a variety of rare neuromuscular diseases (NMDs), including Charcot-Marie-Tooth disease (CMT), congenital myopathies, distal myopathy, Duchenne and Becker muscular dystrophies (DBMD), Emery-Dreifuss muscular dystrophy (EDMD), facioscapulohumeral muscular dystrophy (FSHD), Friedreich's ataxia (FA), giant axonal neuropathy (GAN), inclusion body myopathy (IBM), mitochondrial myopathy, myotonia congenita (MC), myotonic dystrophy (DM), Pompe disease, and spinal muscular atrophy (SMA).

"MDA awards grants to the world's best scientists investigating promising theories and therapies that may accelerate treatments and cures for families living with muscular dystrophy, ALS and related neuromuscular diseases," said Grace Pavlath, PhD, senior vice president and chief research officer at MDA. "Each award will build upon the swift advances that have taken place in research and drug development technologies in the last several years."

The awarded grants will fund studies that aim to clarify the causes of NMDs, develop new therapeutic approaches, and improve the way clinical trials are conducted. This latest round of funding also includes three development grants awarded to investigators at the beginning of their careers and who are on the brink of becoming independent investigators, along with 23 research grants awarded to established, independent investigators.

MDA previously announced funding eight new grants this year totaling more than $2 million toward research focused on amyotrophic lateral sclerosis (ALS), a disease in which muscles become weak and eventually nonfunctional.

Highlights from the grant awards for this grant cycle include:

Alan Beggs, PhD, professor of Pediatrics at Harvard Medical School and director of the Manton Center for Orphan Disease Research at Children's Hospital Boston, has been awarded a research grant totaling $300,000 over three years to continue his previous research on the molecular genetics of congenital myopathies. In this project, Dr. Beggs will use whole genome sequencing methods to discover the disease genes and genetic mutations that cause congenital myopathy in patients and families where the underlying cause has not yet been identified. Then, to better understand the biological pathways that lead to disease and search for effective therapies, Dr. Beggs will develop animal models with these mutations to understand how these new mutations lead to disease and screen for new drugs to treat these conditions. It is hoped that this work will have translational and clinical application across many diseases.

Kevin Flanigan, MD, attending neurologist at Nationwide Children's Hospital in Columbus, Ohio, and professor of Pediatrics and Neurology at The Ohio State University College of Medicine, was awarded a clinical trial grant totaling $528,798 over two years to conduct a pilot clinical trial in Duchenne muscular dystrophy (DMD) boys aged 4 to 7 years old to study treatment with spironolactone relative to prednisolone. The mineralocorticoid receptor antagonist spironolactone is an approved drug that has been shown to protect skeletal and cardiac muscle function in DMD mice. Because traditional glucocorticoid steroids like prednisolone can have harmful side effects, this work will be an important step toward finding an alternative treatment by repurposing an already-approved drug.

Davide Gabellini, PhD, head of the Gene Expression and Muscular Dystrophy Unit at IRCCS Ospedale San Raffaele in Milan, Italy, was awarded a research grant totaling $297,738 over three years to study the role of Matrin 3 protein (MATR3) in decreasing double homeobox 4 protein (DUX4), the protein known to cause facioscapulohumeral muscular dystrophy. In this study, Dr. Gabellini aims to clarify the DUX4 biological pathway and the mechanism by which DUX4 causes cell death, thereby advancing drug target identification for this disease.

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