Innovations in Science
2021 - SMA - Matthew Avenarius, PhD
"In nearly all cases, the genetic defect is caused by the inheritance of two deleted copies of SMN1, which can rapidly be detected in any genetics laboratory. Instead of inheriting SMN1 gene deletions, a small subset of SMA patients have small DNA changes in the SMN1 gene. In these cases, a nearly identical gene known as SMN2 complicates detecting DNA changes in the SMN1 gene."
Matthew Avenarius, Ph.D., is an Assistant Professor at The Ohio State University in Columbus, OH, has been awarded an MDA Idea Program of $25,000 for one year to detect DNA changes in the SMN1 gene using advance DNA sequencing technologies.
Spinal Muscular Atrophy (SMA) is a group of hereditary diseases affecting motor neurons in the spinal cord and brainstem, which are essential for controlling skeletal muscle activity, causing progressive deterioration and weakness. Individuals with SMA present severe muscle weakness in early childhood with most do not live past the age of 2. Treatment and diagnosis of SMA relies on early detection of mutations in the SMN1 gene. Dr. Avenarius' novel technology to sequence different variants of SMN1 offers the potential to provide a molecular diagnosis of SMA and gain knowledge about these genetic changes.
https://doi.org/10.55762/pc.gr.147550
Grantee: Identifying novel SMA-causing variants by NGS sequencing of the SMN1 locus – Matthew Avenarius, PhD
Grant type: Idea Award
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2021 - DMD - Joseph Metzger, PhD
"Despite great efforts there is no cure for DMD. In this context, it is reasonable to propose that an effective treatment that could prevent or even delay key aspects of DMD muscle disease would be the next best outcome in place of a cure."
Joseph Metzger, Ph.D., Faculty and Head of the Regents of the University of Minnesota – Twin Cities in Minneapolis, MN, has been awarded an MDA Idea Program of $25,000 for one year to evaluate a new high throughput method to test the stability of shortened dystrophin proteins in human stem cell derived skeletal and cardiac muscles.
Dystrophin serves as a link between the cytoskeleton, muscle membrane and extracellular matrix (ECM). Mutations in dystrophin perturbs its normal function leading to progressive deterioration of cardiac and skeletal muscles. There are several ongoing clinical trials focused on using modified shortened forms of the dystrophin protein. Dr. Metzger's project will be essential in characterizing crucial parameters of dystrophin dosing and function required for the success of active and future genetic based DMD clinical trials.
https://doi.org/10.55762/pc.gr.147549
Grantee: Novel high throughput method to assess micro-dystrophin turnover in muscle – Joseph Metzger, PhD
Grant type: Idea Award
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2021 - ALS - Andrew Geronimo, PhD
"Amyotrophic lateral sclerosis (ALS) affects multiple parts of the body including the muscles that control breathing. Early signs of breathing difficulty can appear during sleep, where they often go unrecognized by patients and physicians alike. Identifying early breathing changes in ALS may improve access to life-sustaining therapies."
Andrew Geronimo, M.Sc., Ph.D., is an Assistant Professor at The Pennsylvania State University College of Medicine in Hershey, PA, has been awarded an MDA Idea Grant totaling $25,000 for one year to measure changes in carbon dioxide (CO2) levels using a medical device that is attached to the skin.
ALS is a progressive neuromuscular disorder that weakens the muscles of respiration, eventually leading to chronic respiratory failure with abnormally high concentration of CO2 in the blood. In ALS clinics, they collect respiratory measurements during the day, but not during the nighttime. Dr. Geronimo's project hopes to show that the use of a medical device that will sense CO2 on the skin during sleep can help identify breathing problems and detect any breathing challenges at an earlier stage. Their study has the potential to inform how early respiratory therapies can improve the quality of life and survival of ALS patients.
https://doi.org/10.55762/pc.gr.147564
Grantee: Assessment of Nocturnal Hypoventilation in Amyotrophic Lateral Sclerosis – Andrew Geronimo, PhD
Grant type: Idea Award
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2021 - DM - Massimo Delledonne, MSc, PhD
"Myotonic dystrophies (DM1 and DM2) represent the most common inherited muscular dystrophies in adults. These diseases are caused by the expansions of CTG and CCTG base repetitions in the DMPK and CNBP genes, respectively. The presence of these repeats triggers the accumulation of long genetic products that form clumps inside the cell and interfere with the production of many other proteins."
Massimo Delledonne, M.Sc., Ph.D., is a Full Professor at the University of Verona in Verona, Italy, has been awarded an MDA Idea Grant totaling $25,000 for one year to optimize properties of DM expansions and understand the relationship based on clinical phenotype.
Formation of clumps inside the cells of DM patients leading to a cascade of effects that interferes with muscle cells functioning properly and ultimately leading to muscle deterioration. However, it remains unclear how expansion sizes affect symptoms and severity of the disease. Dr. Delledonne's research will apply innovative genomic technologies that will help uncover new DM expanded alleles, better way to stratify patients in trials, and potentially improve the types of information needed to establish a diagnosis for other neuromuscular diseases with known repeat expansions.
https://doi.org/10.55762/pc.gr.147563
Grantee: Innovative technologies to unravel the complexity of myotonic dystrophy repeats – Massimo Delledonne, MSc, PhD
Grant type: Idea Award
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2021 - CMT - Joshua Burns, PhD
"Charcot-Marie-Tooth disease (CMT) is a genetic neuromuscular disease, causing muscle weakness, foot deformities, and frequent trips and falls or difficulty walking. There is currently no cure for CMT, but promising treatments are on the horizon."
Joshua Burns, Ph.D., is a Professor of Paediatric Neuromuscular Rehabilitation and Associate Dean Research at the University of Sydney in Sydney, NSW, Australia, has been awarded an MDA Idea Grant totaling $25,000 for one year to develop training and resources and accreditation program for clinical evaluators worldwide to help assess patients with CMT.
A robust clinical outcome assessment (COA) is available online, www.clinicaloutcomemeasures.org, for use with individuals with CMT. The online has over 200 clinical evaluators registered worldwide. To avoid evaluator drift and variability in assessment measurements, online training and accreditation systems are significant especially during the COVID-19 era. Dr. Burns's project aims to make eHealth training and resources available and accredit clinicians to use COAs as a reliable measurement for clinical trials and how to use it accurately.
https://doi.org/10.55762/pc.gr.147562
Grantee: Establishing a network of highly trained and reliable CMT clinical evaluators – Joshua Burns, PhD
Grant type: Idea Award
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2021 - DMD - Stefano Biressi, PhD
"Despite the similar initiating cause, DMD patients vary significantly in the progression of the disease. Recent studies pointed at the membrane molecule jag1 as a positive modulator of muscle regeneration capable of conferring a nearly normal clinical phenotype and lifespan in naturally occurring jag1 overexpressing canine models of DMD."
Stefano Biressi, Ph.D., is an Associate Professor at the University of Trento in Provo-Trento, Italy, has been awarded an MDA Idea Grant totaling $25,000 for one year to increase jag1 membrane protein activity by using a novel class of synthetic long non-coding RNAs, also known as SINEUPs.
SINEUPs increase protein synthesis in mammalian cells by binding efficiently to target mRNA. They have been shown to upregulate protein synthesis within physiological levels, which shows an optimal safety profile. Dr. Biressi's work is to develop synthetic SINEUPs that can target the upregulation of jag1 in dystrophic mice. Their work will help speed up the process of developing a new approach to target other therapeutic genes in dystrophic muscle.
https://doi.org/10.55762/pc.gr.147561
Grantee: Jag1 gene therapy in muscular dystrophies – Stefano Biressi, PhD
Grant type: Idea Award
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2021 - DMD - Tanja Taivassalo, PhD
"Measuring the capacity for exercise and associated physiological responses will be important in determining the functional efficacy of emerging treatments, as well as in establishing guidelines for patients to safely exercise. Currently, the 6-minute walk test (6MWT) is the only FDA-approved outcome and it measures submaximal exercise capacity."
Tanja Taivassalo, Ph.D., is a Research Associate Professor at the University of Florida in Gainesville, FL, has been awarded an MDA Idea Grant totaling $25,000 for one year to use physiological exercises to study functional capacity in patients with Duchenne Muscular Dystrophy (DMD).
DMD is a progressive disease that causes muscle deterioration, which causes children to premature loss of ambulation and death from respiratory or cardiac failure. In the age of discovering disease modifying treatments to improve muscle function and exercise capacity, quantification of exercise intensity and understanding the limitations will become important aspects in determining treatment efficacy and prescribing safe exercise guidelines. Dr. Taivassalo's work will uncover underlying mechanisms that reduces exercise capacity, how physiological exercises help improve exercise capacity in response to therapy, and clinical guidance to DMD patient care.
https://doi.org/10.55762/pc.gr.147560
Grantee: Measuring cardiopulmonary responses to the 6MWT and peak effort exercise in DMD – Tanja Taivassalo, PhD
Grant type: Idea Award
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2021 - DMD - Nick Menhart, PhD
"With the advent of multiple approved exon skipping therapies, meaningful disease modifying therapy is now a reality. This therapy results the restoration of dystrophin expression, the protein whose absence causes DMD. However, it is missing both the initial defect, as well as a small portion skipped therapeutically."
Nick Menhart, Ph.D., is an Associate Professor at the Illinois Institute of Technology in Chicago, IL, has been awarded an MDA Idea Grant totaling $25,000 for one year to use the computational tools they developed to understand the impact of edits on dystrophin stability and structure.
Exon skipping can only occur at exon skipping areas, which can lead to protein structure instability. Dr. Menhart's lab discovered that edit-mediated structural disruption did not occur near the edit site, but rather located outside of the edit side and exhibited at domain junctions. With their computational framework they can search for optimal edits on the protein and test the sites with wet lab testing.
https://doi.org/10.55762/pc.gr.147559
Grantee: Computational Design of Modified Dystrophins – Nick Menhart, PhD
Grant type: Idea Award
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2021 - DMD - Alexandre Blais, PhD
"Although research has revealed a number of desirable properties for donor cells, in particular the ability to return to a state of dormancy and a location close to muscle cells, more work is needed to uncover methods to enforce the acquisition of these properties."
Alexandre Blais, Ph.D., is a Principal Investigator at the University of Ottawa in Ottawa, Ontario, Canada, has been awarded an MDA Idea Grant totaling $25,000 for one year to study the genome of muscle stem cells and identify roles of regulatory proteins.
Among the many potential therapies that are being investigated to treat neuromuscular diseases including Duchenne Muscular Dystrophy (DMD), muscle stem cell therapy provides promising approaches. However, there are still many challenges with muscle stem cell therapy that researchers are posed with. A common challenge is that donor cells do not assume the fate of desired cells once transplanted into recipient muscles. Dr. Blais’s research will help identify the molecular mode of action of a regulatory protein that is important for the dormancy of muscle stem cells.
https://doi.org/10.55762/pc.gr.147558
Grantee: Glucocorticoid receptor and muscle stem cell quiescence – Alexandre Blais, PhD
Grant type: Idea Award
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2021 - DMD - Emma Rybalka, PhD
"Duchenne Muscular Dystrophy (DMD) is a fatal inherited disease, causing boys muscles, including the heart and respiratory muscles, to waste away. Currently, it is incurable and there is an extraordinary need for new medicines to treat the rate and severity of its progression."
Emma Rybalka, Ph.D., is a Senior Fellow and Lecturer at Victoria University in Melbourne, Australia, has been awarded an MDA Idea Grant totaling $25,000 for one year to investigate the re-purposed medicine dimethyl fumarate (DMF) as a treatment for DMD.
Dr. Rybalka's group identified DMF as having a high translational potential because it is a strong anti-inflammatory and immunosuppressant drug, it helps with muscle repair and growth, and it has been approved worldwide to treat Multiple Sclerosis. This project will help identify the efficacy of of MDF as a treatment for DMD.
https://doi.org/10.55762/pc.gr.147557
Grantee: Re-purposing dimethyl fumarate for the treatment for Duchenne Muscular Dystrophy – Emma Rybalka, PhD
Grant type: Idea Award
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2021 - CMD - Valérie Allamand, PhD
"Absence of the protein called collagen VI (COL6), which is important for the integrity and function of skeletal muscle and numerous tissues, leads to several forms of neuromuscular diseases with variable clinical presentation, collectively named COL6-related dystrophies (COL6-RD). They are amongst the most common congenital muscular dystrophy forms throughout the world. Despite our increasing knowledge of these diseases, no curative treatment is available yet."
Valérie Allamand, Ph.D., is a Researcher at Sorbonne Universite-Inserm in Paris, France, has been awarded an MDA Idea Grant totaling $25,000 for one year to use viral vectors to deliver transfer RNAs (tRNAs) to synthesize collagen VI protein.
COL6 mutations that introduce premature stop codons show the most severe clinical presentations. Individuals who are affected by these mutations, about 10% of patients with COL6-RD, typically do not have COL6 synthesized in the extracellular matrix. Dr. Allamand will correct the production of COL6 by using anticodon engineered tRNAs. The findings will provide data for in vivo approaches on treated cells and pre-clinical studies in COL6-RD mouse models with nonsense mutation. Additionally, the technique used in this project can be applied to other neuromuscular diseases caused by nonsense mutations.
https://doi.org/10.55762/pc.gr.147546
Grantee: Suppression of COL6 premature termination codons by anticodon-edited tRNAs – Valérie Allamand, PhD
Grant type: Idea Award
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2021 - ALS - Frederick Arnold, PhD
"Altered RNA metabolism is a common theme in ALS. Indeed, RNA binding proteins (RBPs) are among the most commonly mutated proteins in inherited forms of ALS. These mutations alter gene expression and change the function of RNA-RBP condensates in the cell."
Frederick Arnold, Ph.D., is a Postdoctoral Scholar at The Regents of the University of California in Irvine, CA has been awarded an MDA Development Grant totaling $220,000 for three years to identify central regulators of RNA metabolism in human motor neurons and understand how it changes in ALS.
The RNA exosome complex is found in all cells and known to be important for the survival of motor neurons. The subunits of the exosome complex interact directly with RBPs implicated in ALS. Dr. Arnold's project will help discover RNA substrates and RBP cofactors of the exosome complex in healthy and ALS human motor neurons which could have broad therapeutic impact in ALS treatment.
https://doi.org/10.55762/pc.gr.147555
Grantee: The RNA exosome complex in ALS disease pathogenesis – Frederick Arnold, PhD
Grant type: Development Grant
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2021 - CMD - Daniel Calame, MD, PhD
"Neuromuscular diseases result from dysfunction in the spinal cord, nerves or muscles. This dysfunction is often caused by mutations in our genes. Genetic advances have resulted in the discovery of more than 500 genes which cause neuromuscular diseases."
Daniel Calame, M.D., Ph.D., is a Postdoctoral Fellow at Baylor College of Medicine in Houston, TX, has been awarded an MDA Development Grant totaling $220,000 for three years to improve rates of diagnoses expand the knowledge in neuromuscular genetics using RNA-seq and long-read whole genome sequencing.
Despite these advances, more than half of patients with neuromuscular disease still lack a genetic diagnosis. Several factors contribute to low diagnostic rates. Utilization of RNA-seq and long-read whole genome sequencing in a cohort of well-characterized patients with undiagnosed neuromuscular disease will help discover novel mechanisms of neuromuscular disease and create opportunities for new treatments.
https://doi.org/10.55762/pc.gr.147552
Grantee: Uncovering the Genomic Architecture of Undiagnosed Neuromuscular Disease – Daniel Calame, MD, PhD
Grant type: Development Grant
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2021 - DMD - Jae-Sung You, PhD
"Loss of dystrophin protein perturbs several cellular components important for maintaining muscle integrity, leading to a debilitating muscle disease termed Duchenne muscular dystrophy (DMD). One of the disturbed cellular processes is autophagy, an essential clean-up system that removes toxic cellular wastes."
Jae-Sung You, Ph.D., is a Postdoctoral Research Associate at The Board of Trustees of the University of Illinois at Urbana-Champaign in Urbana, IL, has been awarded an MDA Development Grant totaling $220,000 for three years to explore the role of autophagy and how it contributes to the pathology of DMD.
Studies have shown that an autophagy suppressor, mammalian target of rapamycin complex 1 (mTOR1), was observed in mouse and human DMD skeletal muscles. It has also been shown that inhibition of mTOR1 by rapamycin or low protein diet that autophagy was rescued and improved dystrophic phenotypes in DMD mice. Dr. You's work will help fill in current knowledge gap in DMD pathology and discover new therapeutic targets for the treatment of the disease.
https://doi.org/10.55762/pc.gr.147556
Grantee: Targeting Leucyl-tRNA synthetase and autophagy in Duchenne muscular dystrophy – Jae-Sung You, PhD
Grant type: Development Grant
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2021 - SMA - Narendra Jha, PhD
"While enhancing SMN as a means to treating SMA is undoubtedly a major development, the therapeutic strategy has its limitations. Indeed, early clinical results and the outcome of studies in model mice have shown that one major caveat stems from the timing of treatment; unless patients are treated shortly after birth, they tend not to benefit."
Narendra Jha, Ph.D., is a Postdoctoral Scientist at Columbia University Medical Center in New York, NY, has been awarded an MDA Development Grant totaling $220,000 for three years to identify factors that mediate the effects of SMN on the neuromuscular system, specifically muscle and nerve.
Although there have been therapeutic advances developed to address SMA, there is still a need to better understand the basic biology of SMA. The outcome of Dr. Jha's project will help with two potential discoveries: 1) unravel how low SMN protein can lead to SMA and 2) refined treatments of the disease.
https://doi.org/10.55762/pc.gr.147553
Grantee: Identification of modifier gene(s) of spinal muscular atrophy in model mice – Narendra Jha, PhD
Grant type: Development Grant
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2021 - DMD - Junio Dort, PhD
"Duchenne muscular dystrophy (DMD) is a severe genetic disease that affects about 1 out of 4000 boys. The disease causes progressive muscle loss and weakness, resulting in ambulatory difficulties that are followed by an early death."
Junio Dort, Ph.D., is a Postdoctoral Research Fellow at the Centre Hospitalier Universitaire Sainte-Justine in Quebec, Canada, has been awarded an MDA Development Grant totaling $220,000 for three years to investigate the effects of specialized pro-resolving medicators (SPMs) as a treatment for DMD. SPMs are fatty acids-derived molecules with potent anti-inflammatory effects.
Glucocorticoid drugs are used to help dampen inflammation to partially preserve muscle function in DMD. However, the beneficial effects are time limited and there are detrimental side effects. In this work, Dr. Dort will examine the translational potential of resolving D2 (RvD2), a SPM derived from omega 3 fatty acids, in different models.
https://doi.org/10.55762/pc.gr.147551
Grantee: Beneficial impact of Resolvin-D2 on Duchenne Muscular Dystrophy – Junio Dort, PhD
Grant type: Development Grant
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2021 - ALS - Xin Jiang, PhD
"ASO-based approaches have shown promising results in different neurodegenerative diseases and I will test whether the method is efficient in blocking aberrant translation in C9ORF72 ALS/FTD. Overall, this project will not only help us understand the contribution of DPRs in ALS/FTD but will also shed light on a potential therapeutic strategy for C9ORF72-disease."
Xin Jiang, Ph.D., is a Postdoctoral Research fellow at Massachusetts General Hospital in Charlestown, MA, has been awarded an MDA Development Grant totaling $220,000 for three years to investigate the effects of genome editing and antisense oligonucleotides (ASOs) in blocking the synthesis of dipeptide repeats (DPRs).
Accumulation of abnormal proteins called dipeptide repeats (DPRs) are the most common cause for inherited ALS and FTD (Frontotemporal dementia). These DPRs are easy to form protein aggregates in the brain and are toxic to the brain cells. Findings from Dr. Jiang's project will help us understand the effects of DPRs in ALS and Frontotemporal Dementia (FTD).
https://doi.org/10.55762/pc.gr.147548
Grantee: Blocking RAN translation to rescue C9ORF72-related ALS/FTD phenotypes – Xin Jiang, PhD
Grant type: Development Grant
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2021 - MM - Alba Timón-Gómez, PhD
"There is an enormous need for a better understanding of the clinical, demographic, and genetic features that underlie the phenotypic variability of AL Within the cell, mitochondria contain the system responsible to make aerobic energy: the mitochondrial respiratory chain (MRC) and the oxidative phosphorylation system. Any mutation in this machinery produces a mitochondrial disease."
Alba Timón-Gómez, Ph.D., is a Postdoctoral Associate at the Miller School of Medicine of the University of Miami in Miami, FL, has been awarded an MDA Development Grant totaling $220,000 for three years to study the who and how mitochondrial respiratory chain plasticity is regulated in healthy and stress induced cells.
The muscles and brain have high energy demands, which makes them the most affected organs in mitochondrial disorders. Findings from this work could help gain insights into the pathogenesis of mitochondrial encephalomyopathies.
https://doi.org/10.55762/pc.gr.147547
Grantee: Role of mitochondrial hypoxia inducible factors in respiratory chain biogenesis – Alba Timón-Gómez, PhD
Grant type: Development Grant
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Summer 2020 - CMT - Stephan Zuchner, MD, PhD
"An open Charcot-Marie-Tooth genetics data resource could help expedite CMT research, from gene identification to drug discovery and development."
Stephan Zuchner, M.D., Ph.D., chairman of the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami School of Medicine in Florida, was awarded an MDA research infrastructure grant totaling $384,967 over three years to expand and make more widely available resources to streamline gene identification and therapy development efforts for Charcot-Marie-Tooth disease (CMT).
Approximately 40 percent of people with CMT do not have a confirmed genetic diagnosis, highlighting the need for a continued focus on gene identification efforts for CMT. Since the most common causative genes for CMT have already been identified, there exists a need for genetic analysis across larger cohorts of patients to find rare causes of disease. In collaboration with the Inherited Neuropathy Consortium, Dr. Zuchner has developed a genomic data infrastructure platform. This open CMT genetics data resource allows for aggregation, archiving, analysis, comparison and sharing of genetic data among many laboratories and institutions.
The resource will accelerate CMT research from gene identification to therapy discovery and development. Making such data available to CMT researchers in the United States and around the world could improve diagnostic processes, guide functional studies and drug discovery, and build the foundation for the patient selection process necessary for well-designed clinical trials.
https://doi.org/10.55762/pc.gr.140810
Grantee: Data Resource for CMT Genomics - Stephan Zuchner, MD, PhD
Grant type: Infrastructure Grant
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Summer 2020 - ALS - Sabrina Paganoni, MD, PhD
"To accelerate therapy development, we designed the first Platform Trial for ALS in the world. Traditionally, each trial evaluates only one drug at a time. Platform trials, instead, are trials where multiple drugs are tested in multiple treatment arms at the same time."
Sabrina Paganoni, Assistant Professor of Physical Medicine and Rehabilitation at Harvard Medical School and Co-Director of the Massachusetts General Hospital Neurological Clinical Research Institute, was awarded an MDA grant totaling $500,000 over three years to support the HEALEY ALS platform trial.
Recent breakthroughs in ALS science have generated a rich pipeline of promising therapeutics and new hope that effective treatments may be within reach. However, the typical clinical trial design is inefficient, expensive, and leads to long delays between drug discovery and trials. Platform trials enable the testing of multiple therapeutics within an existing infrastructure, allowing for addition of new treatment regimens and reduced number of placebo controls compared to conventional trials.
This grant will support the infrastructure needed to sustain the HEALEY ALS platform trial, which will facilitate the testing of novel therapies and also create opportunities to test novel biomarkers and tools that can potentially provide answers more quickly than traditional endpoints.
https://doi.org/10.55762/pc.gr.141000
Grantee: ALS Platform Trial: Accelerating the path to effective treatments - Sabrina Paganoni, MD, PhD
Grant type: Neuromuscular Disease Clinical Research Grant
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Summer 2020 - DMD - Qi Lu, MD, PhD
"Cardiomyopathy is a prominent feature of many neuromuscular diseases including Duchenne muscular dystrophy (DMD)."
Qi Lu, M.D., Ph.D., director of the McColl Lockwood Laboratory for Muscular Dystrophy Research at Atrium Health in Charlotte, NC, has been awarded an MDA restricted research grant totaling $350,153 over two years to develop a way to reduce the death of heart muscle cells known as cardiomyocytes and improve their capacity to regenerate.
Heart failure is a common cause of death in people with all types of muscular dystrophy, due to accumulation of fibrosis that leads to poor regenerative capacity in the heart muscle, and ultimately heart failure. Dr. Lu’s research may provide new hope for all heart failure patients.
Grantee: Cardiac Regenerative Model for MD - Qi Lu, MD, PhD
Grant type: Restricted Research Grant
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Summer 2020 - ALS - Michael Benatar, M.D., Ph.D.
"A holy-grail of physician-investigators engaged in both ALS patient care and research has been the efficient and effective use of clinically-derived data for research purposes. To address this critically unmet need, we have partnered with Epic (the maker of the most widely used electronic health record [EHR] system) to build the ALS Toolkit. This resource will permit broad sharing of de-identified clinical data in a regulatory-compliant manner."
Michael Benatar, Professor of Neurology at the Miller School of Medicine of the University of Miami, was awarded an MDA Clinical Research Network Grant totaling $916,261 over three years to support the multicenter deployment of the ALS toolkit, a module built into the Epic EHR that aims to facilitate structured data collection for research and improve quality of care.
Clinics are critical to ALS patient care, leading to improved quality of life and prolonged survival. Clinic visits can take several hours with substantial clinical data collected; however, these data have limited utility for research purposes because of the unstructured way in which the data are collected. The ALS toolkit will provide a platform for standardized data collection across clinical sites, which could obviate the need for separate research visits and reduce the burden on patients and physicians.
https://doi.org/10.55762/pc.gr.140912
Grantee: Clinical Procedures to Support Research (CAPTURE) - Michael Benatar, M.D., Ph.D.
Grant type: Neuromuscular Disease Clinical Research Network Grant
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Summer 2020 - ALS - Jonathan Glass, MD
"There is an enormous need for a better understanding of the clinical, demographic, and genetic features that underlie the clinical variability seen in patients suffering from ALS."
Jonathan Glass, M.D., Ph.D., Professor of Neurology at Emory University, has been awarded an MDA restricted research grant of $137,228 for one year to continue to provide the ALS research community with data, biofluids, and tissues from deeply phenotyped ALS patients and people without ALS who participate in Emory’s Clinical Research in ALS (CRiALS) project.
There is significant phenotypic and genetic heterogeneity observed among persons with ALS, which may partly explain some of the failures in clinical trials. The CRiALS database is considered one of the most valuable resources for ALS research with a large and extremely well characterized patient population. Dr. Glass’ work could pave the way for better defined disease features and ultimately clinical trials targeting specific patient populations.
Grantee: Clinical Research in ALS (CRiALS): A clinical database and specimen biobank - Jonathan Glass, MD
Grant type: Restricted Research Grant
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Summer 2020 - ALS - Jeffrey Rothstein, MD, PhD
"Recent studies in human disease support the notion that loss of such TDP43 function is compromised as an early event in neurons of cases of ALS-FTD. If so, a promising therapeutic strategy would be to complement the loss of TDP-43 splicing repression in neurons of ALS-FTD."
Jeffrey Rothstein, M.D., Ph.D., director of the Robert Packard Center for ALS Research at Johns Hopkins University School of Medicine, has been awarded an MDA restricted research grant of $54,785 for one year for investigator Philip C. Wong, PhD, professor of Pathology, to develop an adeno-associated virus (AAV) delivery method to validate a gene therapy strategy for ALS and frontotemporal degeneration (FTD).
TDP-43 pathology is a major pathological hallmark of nearly all cases of ALS yet the full picture of how TDP-43 pathogenesis affects neurons is not clear. The proposed strategy is hoped to compensate for the loss of normal RNA generation due to dysfunction related to TDP-43.
https://doi.org/10.55762/pc.gr.143537
Grantee: Validating an AAV gene therapeutic strategy for ALS-FTD - Jeffrey Rothstein, MD, PhD
Grant type: Restricted Research Grant
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Summer 2020 - Jeffrey Chamberlain, PhD
"Our new approach will continue development of a novel approach to delivering larger, possibly up to full-length, dystrophins."
Jeffrey Chamberlain, Ph.D., Professor and McCaw Endowed Chair of Muscular Dystrophy at the University of Washington School of Medicine, was awarded an MDA restricted research grant totaling $471,693 over two years to develop improved dystrophin vectors that can deliver larger and more functional dystrophins to muscles throughout the body in patients with Duchenne muscular dystrophy (DMD).
Current approaches for DMD gene therapy rely on AAV delivery of micro-dystrophin or gene editing tools, which each produce smaller than normal dystrophins. Dr. Chamberlain plans to develop improved dystrophin vectors than can produce larger and more functional dystrophin to muscles of DMD patients. If successful, this technology would be applicable to any DMD or Becker’s muscular dystrophy (BMD) patient.
Grantee: Generation of large dystrophins in muscle via AAV vector delivery - Jeffrey Chamberlain, PhD
Grant type: Restricted Research Grant
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