US FDA Grants Expanded Approval of ELEVIDYS Gene Therapy for DMD Patients Ages 4 and Above

About Us

Our mission is to empower people living with neuromuscular diseases to live longer, more independent lives.

Muscular Dystrophy Association Awards 26 Grants Totaling More Than $7.5 Million for Neuromuscular Disease Research

Critical funding provided by MDA will support studies to discover disease-causing genes, optimize existing therapies and develop new therapeutic molecules, and advance drug target identification -- research that will have translational and clinical application across many diseases

Updated 5/16/19

NEW YORK, May 14, 2019 /PRNewswire/ -- The Muscular Dystrophy Association (MDA) announced today 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). This round of grant funding reinforces MDA's unwavering commitment to the progress of neuromuscular disease research and builds on the more than $1 billion MDA has already invested in research to uncover new treatments and cures for NMDs since its inception.

Grace K. Pavlath

"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," says 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."

Answering crucial questions to speed therapy development

The newly funded projects will promote research discoveries and development of new therapies on several fronts. 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.

MDA is also committed to maintaining a robust pipeline of promising early-stage scientists who will make the important discoveries of the future. Therefore, 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.

For a complete list of individual awards for this grant cycle, visit MDA's website and explore the Grants at a Glance section.

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 how specific factors decrease 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.

All other grant awards for this grant cycle include:

Charcot-Marie-Tooth disease (CMT)

Charles Abrams, MD, PhD
University of Illinois, Chicago
Research grant, $300,000
Mechanisms of pathogenesis in CMT1X

Distal myopathy

Aikaterini Kontrogianni-Konstantopoulos, PhD
University of Maryland School of Medicine
Research grant, $300,000 
Novel mutations in MYBPC1 resulting in myopathy with tremor

Duchenne and Becker muscular dystrophy (DBMD)

Justin Boyer, PhD
Cincinnati Children's Hospital Medical Center
Development grant, $210,000 
The role of Erk1/2 signaling in satellite cells

Diego Fraidenraich, PhD
Rutgers New Jersey Medical School
Research grant, $300,000 
Rescue of DMD-cardiomyopathy in mdx:utrophin mice by mutant phospho-connexin-43

Chad Heatwole, MD
University of Rochester Medical Center, N.Y.
Human clinical trial grant, $200,000 
Development of disease-specific PRO measures for DMD therapeutic trials

M. Carrie Miceli, PhD
University of California, Los Angeles
Research grant, $300,000 
CyTOF immune phenotyping of DMD muscle-infiltrate & PBL for biomarker discovery

Foteini Mourkioti, PhD
Perelman School of Medicine, University of Pennsylvania
Research grant, $300,000 
Telomeric protein requirements in cardiac dystrophy

Roger Stromberg, PhD
Karolinska Institute, Sweden
in collaboration with
Annemieke Aartsma-Rus, PhD
Leiden University Medical Center
Research grant, $200,000 
Delivery of enhanced oligonucleotide therapeutics for Duchenne muscular dystrophy

Steven Welc, PhD
University of California, Los Angeles
Development grant, $210,000 
The role of Klotho in fibro/adipogenic progenitor cell fate in dystrophic muscle

Emery-Dreifuss muscular dystrophy (EDMD)

Tyler Kirby, PhD
Cornell University
Development grant, $210,000 
DNA-PK hyperactivation in the progression of Emery-Dreifuss muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD)

Jeffrey Miller, PhD
Boston University School of Medicine
Research grant, $300,000 
Pathogenesis and therapeutic targets in FSHD

Friedreich's ataxia (FA)

Sanjay Bidichandani, PhD
University of Oklahoma Health Sciences Center
Research grant, $300,000 
Epigenetic silencing in Friedreich's ataxia

Giant axonal neuropathy (GAN)

Puneet Opal, MD, PhD
Northwestern University Feinberg School of Medicine, Chicago
Research grant, $304,601 
Understanding pathophysiological mechanisms underlying giant axonal neuropathy

Inclusion body myopathy (IBM)

Ming Guo, MD, PhD
University of California, Los Angeles
Research grant, $300,000 
Investigation of defects in disease models of inclusion body myopathy

Mitochondrial myopathy

Luis Lopez Garcia, PhD
University of Granada, Spain
Research grant, $289,865 
New therapeutic molecules for the treatment of mitochondrial diseases

Giovanni Manfredi, MD, PhD
Weill Cornell Medical College
Research grant, $300,000 
A novel knock in mouse model to study CHCHD10 mitochondrial diseases

Luca Scorrano, MD, PhD
University of Padova & Venetian Institute of Molecular Medicine, Italy
Research grant, $286,935 
Enhancing Opa1-dependent cristae structure to combat mitochondrial diseases

Myotonia congenita (MC)

Mark Rich, MD, PhD
Wright State University, Ohio
Research grant, $300,000 
Block of TRPV4 channels as a novel approach to therapy of myotonia congenita

Myotonic dystrophy (DM)

Thomas Cooper, MD
Baylor College of Medicine
Research grant, $325,571 
Pathogenic mechanisms of the cardiac manifestations of DM1

Matthew Disney, PhD
The Scripps Research Institute, Florida
Research grant, $300,000 
Designer small molecules that cleave the RNA that causes DM2, r(CCUG)exp

Steven Zimmerman, PhD
University of Illinois, Urbana-Champaign
Research grant, $289,301 
Advancing new therapeutic agents for myotonic dystrophy type 1 (DM1)

Pompe disease

Ellen Roche, PhD
Massachusetts Institute of Technology
Research grant, $300,000 
Development of a soft robotic implantable ventilator

Spinal muscular atrophy (SMA)

Stephen Meriney, PhD
University of Pittsburgh
Research grant, $302,587 
Targeting deficits in ASO treatment of SMA using a calcium channel agonist

About the Muscular Dystrophy Association

MDA is committed to transforming the lives of people affected by muscular dystrophy, ALS and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases. MDA's MOVR is the first and only data hub that aggregates clinical, genetic and patient reported data for multiple neuromuscular diseases to improve health outcomes and accelerate drug development. MDA supports the largest network of multidisciplinary clinics providing best in class care at more than 150 of the nation's top medical institutions. Our Resource Center serves the community with one-on-one specialized support, and we offer educational conferences, events, and materials for families and healthcare providers. Each year thousands of children and young adults learn vital life skills and gain independence at summer camp and through recreational programs, at no cost to families. For more information visit

SOURCE: Muscular Dystrophy Association