Last update 19 Sep 2024

Muscular Dystrophy, Emery-Dreifuss

Last update 19 Sep 2024

Basic Info

Synonyms

Autosomal Recessive Emery Dreifuss Muscular Dystrophy, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Autosomal recessive Emery-Dreifuss muscular dystrophy

+ [53]

Introduction

A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.

Drugs associated with Muscular Dystrophy, Emery-Dreifuss

SAT-3153

Target

AAK1 x Protein kinases

Mechanism

AAK1 inhibitors [+2]

Active Org.

Satellos Bioscience, Inc.

Originator Org.

Satellos Bioscience, Inc.

Active Indication

Muscular Dystrophy, Duchenne [+1]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

AAV gene therapy (Sarepta/Columbia University)

Target-

Mechanism

Gene transference

Active Org.

Sarepta Therapeutics, Inc. [+1]

Originator Org.

Sarepta Therapeutics, Inc.

Active Indication

Muscular Dystrophy, Emery-Dreifuss

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Muscular Dystrophy, Emery-Dreifuss

NCT05394506 / RecruitingNot Applicable

Identification of Genetic Modifying Factors in Striated Muscle Laminopathies

Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be/LMNA/), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called "modifier genes".
Identification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic subgroups did not led to meaningful results so far. In addition, an international retrospective study of the natural history of early muscle laminopathies has allowed the investigators to highlight a strong inter-family clinical variability in patients carrying recurrent mutations. The investigators thus have strong preliminary data that could allow them to identify modifying genetic factors in a cohort of patients carrying a mutation in the LMNA gene.
In order to identify these factors that modulate the clinical severity of laminopathies, the investigators wish to collect biological material (muscle and/or skin biopsies) from patients carrying a mutation in the LMNA gene. The study of this biological material using multi OMICs technics will allow the investigators to identify and functionally validate the action of these modifying genes.
OMIICs is a set of techniques for characterising biological molecules using high-throughput approaches such as DNA sequencing, RNA sequencing and/or chromatin conformation (ATACseq...), proteins.

Start Date08 Sep 2022

Sponsor / Collaborator

Institut National de la Santé et de la Recherche Médicale

NCT01961141 / WithdrawnNot Applicable

Evaluation of Lung Doppler Signals in Patients With Acute Cardiovascular or Pulmonary Conditions Presenting to the Emergency Medicine Department by a Modified Ultrasound Doppler TCD Device.

Historically, ultrasound has been unable to provide interpretable data from the lung parenchyma, mainly because of the high total ultrasound energy attenuation and scattering by the air in the lungs. Recently it has been shown that clear reproducible Doppler signals can be recorded from the lung parenchyma by means of a pulsed Doppler ultrasound system incorporating a special signal processing package (transthoracic parametric Doppler, TPD, EchoSense Ltd., Haifa, Israel). These lung Doppler signals (LDS) are in full synchrony with the cardiac cycle and can be obtained from the lungs, including areas remote from the heart and main pulmonary vessels. The LDS waves typically have peak velocities of up to 30 cm/s and are of relatively high power, making it possible to detect them despite the aforementioned attenuation by the air in the lungs. The LDS are thought to represent the radial wall movement of small pulmonary blood vessels, caused by pressure pulse waves of cardiac origin which propagate throughout the lung vasculature. The LDS may contain information of significant diagnostic and physiological value regarding the pulmonary parenchyma and vasculature, as well as the cardio-vascular system in general.
Preliminary data from ongoing studies employing the TPD in chronic diseases such as CHF, COPD and pulmonary hypertension, show promise regarding the diagnostic potential of the lung Doppler signals (unpublished data). However, lung Doppler signals in acute disease states were not investigated so far. It is reasonable to speculate that the pathological processes underlying acute cardiovascular and pulmonary diseases will affect the LDS. Therefore, the TPD may have diagnostic potential in these conditions. For example, during acute pulmonary embolism a portion of the pulmonary vascular system is occluded; therefore it's reasonable to assume that the LDS will disappear in the affected area, enabling to confirm the diagnosis without using ionizing radiation (as in CT or lung scan). Another example is COPD exacerbation, during which there is usually air trapping in the lungs; thus, the LDS may be attenuated by the increase of air volume in the lungs.

Start Date01 Nov 2014

Sponsor / Collaborator

Echosense Ltd.

NCT01403402 / RecruitingNot ApplicableIIT

Congenital Muscle Disease Patient and Proxy Reported Outcome Study

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required.
The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual.
Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries.
Study hypothesis:
To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.
To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

Start Date01 Sep 2009

Sponsor / Collaborator

Cure CMD

100 Clinical Results associated with Muscular Dystrophy, Emery-Dreifuss

100 Translational Medicine associated with Muscular Dystrophy, Emery-Dreifuss

0 Patents (Medical) associated with Muscular Dystrophy, Emery-Dreifuss

1,493

Literatures (Medical) associated with Muscular Dystrophy, Emery-Dreifuss

01 Mar 2024·Osteoarthritis and cartilage open

The past and future of peri-operative interventions to reduce arthrogenic quadriceps muscle inhibition after total knee arthroplasty: A narrative review.

Review

Author: Laura Churchill ; Michael John Bade ; Ryan C Koonce ; Jennifer E Stevens-Lapsley ; Thomas Bandholm

Total knee arthroplasty (TKA) improves patient-reported function by alleviating joint pain, however the surgical trauma exacerbates already impaired muscle function, which leads to further muscle weakness and disability after surgery. This early postoperative strength loss indicates a massive neural inhibition and is primarily driven by a deficit in quadriceps muscle activation, a process known as arthrogenic muscle inhibition (AMI). To enhance acute recovery of quadriceps muscle function and long-term rehabilitation of individuals after TKA, AMI must be significantly reduced in the early post-operative period. The aim of this narrative review is to review and discuss previous efforts to mitigate AMI after TKA and to suggest new approaches and interventions for future efficacy evaluation. Several strategies have been explored to reduce the degree of post-operative quadriceps AMI and improve strength recovery after TKA by targeting post-operative swelling and inflammation or changing neural discharge. A challenge of this work is the ability to directly measure AMI and relevant contributing factors. For this review we focused on interventions that aimed to reduce post-operative swelling or improve knee extension strength or quadriceps muscle activation measured by twitch interpolation. For individuals undergoing TKA, the use of anti-inflammatory medications, tranexamic acid, cryotherapy, intra-articular drains, torniquets, and minimally invasive surgical techniques for TKA have limited benefit in attenuating quadriceps AMI early after surgery. However, interventions such as inelastic compression garments, voluntary muscle contractions, and neuro-muscular electrical stimulation show promise in mitigating or circumventing AMI and should continue to be refined and explored.

24 Feb 2024·Scientific reports

The unnecessary workups and admissions of adolescents and young adults with spontaneous pneumomediastinum.

Article

Author: Lindsay Wald ; Celeste Yergin ; Robin Petroze ; Shawn Larson ; Saleem Islam

Spontaneous pneumomediastinum (SPM) is a rare condition in children and young adults that raises concern for esophageal perforation or extension of an air leak, resulting in admissions with multiple interventions performed. To assess our outcomes, and to evaluate our resource utilization, we reviewed our experience with SPM. We conducted a retrospective review of SPM cases in patients aged 5-25 years old occurring between 2011 and 2021 at a single academic tertiary care center. Clinical, demographic, and outcome variables were collected and analyzed, and cohorts were compared using Fischer's Exact Test and Welch's T Test. 166 SPM cases were identified-all of which were Emergency Department (ED) presentations. 84% of the cases were admitted. 70% had Computerized Tomography (CT) scans, with no defined criteria for imaging. Comparison of floor admissions with discharges from the ED showed no significant difference in presenting symptoms, demographics, or outcomes between the two groups. Recurrence was noted in 4 patients with a range of 5.9 months-4.9 years from the initial episode. In the largest SPM study in the pediatric and young adult population, we noted no significant difference in management or outcomes in admitted or ED discharge patients nor those with CT imaging. Our results suggest that a large number of SPM can be managed safely with discharge from the ED.

23 Feb 2024·Cytoskeleton (Hoboken, N.J.)

Metastasis-associated 1 localizes to the sarcomeric Z-disc and is implicated in skeletal muscle pathology.

Article

Author: Hongsheng Xue ; Li Han ; Haidi Sun ; Zhe Piao ; Wenjun Cao ; Haili Qian ; Zhilong Zhao ; Ming-Fei Lang ; Chundong Gu

Metastasis-associated 1 (MTA1), a subunit of the nucleosome remodeling and histone deacetylation (NuRD) corepressor complex, was reported to be expressed in the cytoplasm of skeletal muscles. However, the exact subcellular localization and the functional implications of MTA1 in skeletal muscles have not been examined. This study aims to demonstrate the subcellular localization of MTA1 in skeletal muscles and reveal its possible roles in skeletal muscle pathogenesis. Striated muscles (skeletal and cardiac) from C57BL/6 mice of 4-5 weeks were collected to examine the expression of MTA1 by Western blotting and immunohistochemistry. Immunofluorescence and immunoelectron microscopy were performed for MTA1, α-actinin (a Z-disc marker protein), and SMN (survival of motor neuron) proteins. Gene Expression Omnibus (GEO) data sets were analyzed using the GEO2R online tool to explore the functional implications of MTA1 in skeletal muscles. MTA1 expression was detected by Western blotting and immunohistochemistry in skeletal and cardiac muscles. Subcellular localization of MTA1 was found in the Z-disc of sarcomeres, where α-actinin and SMN were expressed. Data mining of GEO profiles suggested that MTA1 dysregulation is associated with multiple skeletal muscle defects, such as Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, nemaline myopathy, and dermatomyositis. The GEO analysis also showed that MTA1 expression gradually decreased with age in mouse skeletal muscle precursor cells. The subcellular localization of MTA1 in sarcomeres of skeletal muscles implies its biological roles in sarcomere structures and its possible contribution to skeletal muscle pathology.

News (Medical) associated with Muscular Dystrophy, Emery-Dreifuss

19 Apr 2023

·www.biospace.com

SOLVE FSHD invests in Epic Bio for the development of a novel treatment for Facioscapulohumeral Muscular DystrophyInvestment will further accelerate the development of EPI-321

VANCOUVER, British Columbia, April 18, 2023 (GLOBE NEWSWIRE) -- SOLVE FSHD, a venture-philanthropic organization catalyzing the pace of innovation to accelerate a cure for FSHD, announced today an investment in Epic Bio, a biotechnology company focused on the epigenome of complex diseases. Epic Bio is developing novel therapies that dynamically control gene expression to treat these diseases using compact, non-cutting dCas proteins. This investment will support development of Epic’s lead program EPI-321, a novel therapeutic that is designed to correct the epigenetic alterations in the D4Z4 region of chromosome 4. Epic’s unique approach to correct the molecular pathology implicated in Facioscapulohumeral Muscular Dystrophy (FSHD) should lead to an effective treatment that prevents further muscle degeneration and thereby slows disease progression. “SOLVE FSHD is very pleased to partner with Epic Bio and to add them to our diverse portfolio of companies rapidly moving forward potential therapies for FSHD,” stated Eva Chin, Executive Director of SOLVE FSHD. “SOLVE FSHD identified Epic Bio as a company committed to finding a cure for this debilitating condition and we were impressed by the unique approach that the company is taking to alter the epigenetic cause of the disease. We expect that the support from SOLVE FSHD will allow Epic Bio to rapidly progress EPI-321 into clinical trials.” “Epic Bio welcomes the investment by SOLVE FSHD and we appreciate their important support for the future development of EPI-321,” added Amber Salzman, Chief Executive Officer of Epic Bio. “SOLVE FSHD is rapidly becoming the partner of choice for companies developing FSHD treatments, so their investment provides strong validation of the Epic Bio GEMS platform and the EPI-321 program.” “Today we are very happy to add another company to the SOLVE FSHD portfolio,” noted Chip Wilson, founder and chairman of the Board of SOLVE FSHD. “More importantly, EPI-321 represents another potential treatment for FSHD, a devastating condition that I and many others like me suffer with every day.” Terms of the investment were not disclosed. About Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular dystrophy, although thirty percent of new FSHD patients have no prior family history of the disease and result from a congenital spontaneous genetic mutation. FSHD typically first presents with weakness of the muscles of the facial muscles and scapular region, with proximal weakness of the pectoral and abductor muscles limiting upper extremity function at the shoulder girdle. Onset is typically in the teenage and early adult years, but it can present in infancy, which tends to be a more aggressive course. The disease is slowly progressive and approximately 20% of patients are wheelchair bound by age 50. Currently there are no treatments specifically indicated for use in FSHD, with no disease-modifying treatments available. About SOLVE FSHD SOLVE FSHD is a venture philanthropic organization established to catalyze innovation and accelerate key research in finding a cure for FSHD. Established by renowned Canadian entrepreneur and philanthropist Chip Wilson, widely known as the founder of lululemon and part owner of Amer Sports which holds renowned brands such as Arc’teryx, Salomon and Wilson Sports. Chip has committed $100 million to kick-start funding into projects that support the organization’s mission to find a cure for FSHD by 2027. The goal of SOLVE FSHD is to find a solution that can stop muscle degeneration, increase muscle regeneration and strength, and improve the quality of life for those living with FSHD. If you have FSHD and want to find out about clinical trials or be included in the FSHD registry, please see Solve FSHD’s website - About Epic Bio Epic Bio is a leading epigenetic engineering company, leveraging the power of CRISPR without cutting DNA. The company is using its proprietary Gene Expression Modulation System (GEMS) to develop therapies. Through the company’s library of the most compact Cas DNA-binding proteins to work on human cells, the company is developing in vivo therapies with delivery via a single AAV vector. Epic Bio has an initial focus on Facioscapulohumeral Muscular Dystrophy (FSHD) and is conducting additional research to address Antitrypsin Deficiency (A1AD), Heterozygous Familial Hypocholesterolemia (HeFH), as well as other indications. The company is financially backed by Horizons Ventures and other leading investors. Visit for more information or follow us on Twitter and LinkedIn. Media Contact Swati Mehta PR Associates smehta@prassociates.com 403-804-0768

12 Oct 2022

·www.biospace.com

Vita Therapeutics Closes $31 Million Series B Financing to Develop Cell Therapies for Neuromuscular Diseases and Cancers

- Fundraising led by Cambrian BioPharma and Solve FSHD - - Company expands pipeline with new program, VTA-120, for the treatment of facioscapulohumeral muscular dystrophy (FSHD) - BALTIMORE--(BUSINESS WIRE)-- Vita Therapeutics, a cell engineering company harnessing the power of genetics to develop novel cellular therapies to treat muscular dystrophies and cancers, today announced the completion of a $31 million Series B financing. The fundraise was led by Cambrian BioPharma and new investor Solve FSHD. New investors included Riptide Ventures and Cedars Sinai, which participated alongside TEDCO and other existing investors. Proceeds from the financing will be used to advance Vita’s lead pre-clinical program VTA-100 for limb-girdle muscular dystrophy (LGMD2A) to the clinic. It will also fund the development of Vita’s newest program, VTA-120 for the treatment of patients with facioscapulohumeral muscular dystrophy (FSHD), and to further expand Vita’s discovery pipeline. Since inception, Vita has raised a total of $66 million. “The support from this strategic group of quality investors further validates Vita’s cell therapy platform and our mission to bring transformative therapies that target the root cause of disease to patients with muscle disorders and cancers,” said Douglas Falk, MS, Chief Executive Officer at Vita Therapeutics. “This syndicate’s confidence in our ability to further progress our programs is energizing and we are thrilled to have them as partners. We are making notable progress with our investigational IND-enabling studies for VTA-100 and are on track to reach the clinic with this important therapeutic candidate within 18 months. Additionally, we are excited to further expand our pipeline to include VTA-120 for the treatment of patients with FSHD. I’m incredibly proud of our entire team and the steady momentum we continue to have.” Chip Wilson, Founder of lululemon athletica and of Solve FSHD noted, “Living with FSHD for over 30 years, my upper body muscles are quite wasted. We are hopeful that Vita’s cell therapy approach will stimulate muscle regeneration and help people like me to build up muscle faster than it breaks down.” “Currently there are no treatments available for FSHD, and there is an urgent need to develop disease-modifying treatments that not only regenerate muscle but correct the genetic defect that otherwise leads to the muscle’s inability to repair itself,” added Eva Chin, Executive Director for Solve FSHD. “We are pleased to support Vita as they continue to expand their induced pluripotent stem cell (iPSC) technology towards FSHD and LGMD.” “Vita Therapeutics aligns with Cambrian’s mission of building medicines that will redefine healthcare in the 21st century,” said Cambrian BioPharma Chief Executive Officer, James Peyer, PhD. “The team, as well as the scientific platform, continues to impress us as they aim to solve for treatments that go beyond symptom management to truly impact these diseases in a positive way.” Pipeline Overview Vita Therapeutics’ current pipeline includes lead program, VTA-100 for the treatment of LGMD2A, VTA-120 for the treatment of FSHD, and VTA-300 targeting multiple cancers. VTA-100 is currently undergoing investigational IND-enabling studies and is designed to be an autologous treatment that combines gene correction and induced iPSC technology to help repair and replace muscle cells for people with LGMD2A. VTA-120 is designed to be an autologous treatment that combines gene correction and iPSC technology to help repair and replace muscle cells for the treatment of FSHD. VTA-300 is an immunotherapy currently under development that combines proprietary chimeric antigen receptor (CAR) technology and gene editing to target an undisclosed indication. About Limb-Girdle Muscular Dystrophy Limb-girdle muscular dystrophy (LGMD) is a group of disorders that cause weakness and wasting of muscles closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and disease progression of LGMD vary among the more than 30 known sub-types of this condition and may be inconsistent even within the same sub-type. As the atrophy and muscle weakness progresses, individuals with LGMD begin to have trouble lifting objects, walking, and climbing stairs, often requiring the use of assistive mobility devices. There is currently no cure for LGMD, with treatments limited to supportive therapies such as corticosteroids. About Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular dystrophy, although thirty percent of new FSHD patients have no prior family history of the disease and result from a congenital spontaneous genetic mutation. FSHD typically first presents with weakness of the muscles of the facial muscles and scapular region, with proximal weakness of the pectoral and abductor muscles limiting upper extremity function at the shoulder girdle. Onset is typically in the teenage and early adult years, but it can present in infancy, which tends to be a more aggressive course. The disease is slowly progressive and approximately 20% of patients are wheelchair bound by age 50. Currently there are no treatments specifically indicated for use in FSHD, with no disease-modifying treatments available. About Vita Therapeutics Vita Therapeutics is a biotechnology company developing state-of-the-art cellular therapeutics for the treatment of debilitating neuromuscular diseases and cancers. Vita Therapeutics uses induced pluripotent stem cell (iPSC) technology to engineer specific cell types designed to replace those that are defective in patients. The Company is progressing its lead program VTA-100 for the treatment of limb-girdle muscular dystrophy (LGMD2A) with the goal of filing Investigational New Drug Applications with the US Food and Drug Administration in the next 18 months. Long term, the Company is developing its pipeline of cellular therapies following a dual development strategy beginning with autologous-derived cells before moving to a universal hypoimmunogenic cell line. Vita Therapeutics is currently working with numerous partners, including PanCella, Wyss Institute, and Johns Hopkins University, to advance their clinical programs. Learn more about the company at . About Cambrian BioPharma Cambrian BioPharma is building the medicines that will redefine healthcare in the 21st century – therapeutics to lengthen healthspan, the period of life spent in good health. As a Distributed Development Company, Cambrian is advancing multiple scientific breakthroughs each targeting a biological driver of aging. Its approach is to develop interventions that treat specific diseases first, then deploy them as preventative medicines to improve overall quality of life during aging. For more information, please visit or follow us on Twitter @CambrianBio and LinkedIn. About SOLVE FSHD SOLVE FSHD is a venture philanthropic organization established to catalyze innovation and accelerate key research in finding a cure for FSHD. Established by renowned Canadian entrepreneur and philanthropist Chip Wilson, the founder of technical apparel company lululemon athletica inc. Chip has committed $100 million to kick-start funding into projects that support the organization’s mission to find a cure for FSHD by 2027. The goal of SOLVE FSHD is to find a solution that can stop muscle degeneration, increase muscle regeneration and strength, and improve the quality of life for those living with FSHD. For more information, please visit: .

Cell TherapyImmunotherapy

19 Sep 2022

·www.prnewswire.com

Muscular Dystrophy Association Announces 70 Research Grants Totaling Over $17 Million

NEW YORK, Sept. 19, 2022 /PRNewswire/ -- The Muscular Dystrophy Association announced today the awarding of 70 new grants totaling over $17 million toward neuromuscular disease research. The newly funded projects aim to advance research discoveries and new therapy development in multiple areas including amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), Duchenne muscular dystrophy (DMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD) spinal muscular atrophy (SMA), myasthenia gravis MG), and myotonic dystrophy (DM), and many more Continue Reading Muscular Dystrophy Association announces 70 research grants totaling over $17 million. This round of grant funding reinforces Muscular Dystrophy Association's unwavering commitment to the progress of neuromuscular disease research and builds on the more than $1 billion the organization has already invested in research to uncover new treatments and cures for neuromuscular diseases since its inception. The organization's model of funding research across many neuromuscular diseases means findings from one disease often enable progress in others, maximizing the speed at which progress can be made. Each grant impacts neuromuscular disease research in a different way, from better understanding the underlying mechanisms of a particular disease to uncovering therapeutic targets to building clinical research infrastructure that will expedite clinical trials to providing early career support to promising young researchers. "The Muscular Dystrophy Association has consistently been a leader in advancing treatments for individuals with neuromuscular disease. Patients are now living longer, more independent lives, due in large part to the more than $1 billion we have invested in research over the past 70+ years," said Donald S. Wood, PhD, President and CEO, Muscular Dystrophy Association. "We are pleased to invest an additional $17 million during this grant cycle to continue to fund the research that will lead to increasing advancements in neuromuscular disease treatments and cures." "The Muscular Dystrophy Association continues to fund the most innovative research that will lead to cures for a range of neuromuscular diseases," says Sharon Hesterlee, PhD, Chief Research Officer, Muscular Dystrophy Association. "We have already seen our investment pay off with the first effective neuromuscular disease therapies, and these grantees are pushing the envelope even further in diseases once thought incurable." The following are highlights from the 2022 Muscular Dystrophy Association Research Grant awards: Jeffrey Statland (University of Kansas Medical Center), Nicholas Johnson (Virginia Commonwealth University), and Rabi Tawil and Charles Thornton (University of Rochester) were jointly awarded the Clinical Research Network Grant of $1,517,502 to support their clinical trial network for facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, and myotonic dystrophy. Muscular Dystrophy Association will support the consolidation of project management and oversite from 15 core centers in the United States under a single umbrella of the MD Clinical Trial Research Network, aimed towards clinical trial readiness for these diseases. Michael Shy (University of Iowa) was awarded the Research Infrastructure Grant of $439,250 to support the Inherited Neuropathy Consortium (INC) to develop the infrastructure necessary to evaluate therapies for patients with Charcot-Marie-Tooth disease. Forum Kamdar (Regents of the University of Minnesota) was awarded a Clinical Research Network Grant of $198,000 towards his project to combine data from large muscular dystrophy and advanced heart failure centers in order to assess cardiac care of patients and address gaps in current cardiac care of patients. Muscular Dystrophy Association is funding pivotal research to support the development of genetic therapies in Duchenne muscular dystrophy, mitochondrial diseases and LAMA2 muscular dystrophy. The projects focused on gene therapies are: "Utrophin Genome Editing for Duchenne's Muscular Dystrophy (DMD) Therapy" by Dr. Tejvir Khurana at the University of Pennsylvania; "Developing Gene Therapy Approaches for mtDNA Deletions" by Dr. Carlo Moraes at the University of Miami; and "Linker-based gene therapy of LAMA2-related muscular dystrophy using AAVMYO" by Dr. Markus Ruegg at the University of Basel. Muscular Dystrophy Association is also funding stem cell-based therapies to further develop treatments for muscular dystrophies: "Mobilizing Muscle Stem Cells to Treat DMD" by Dr. Michael Rudnicki at the Ottawa Hospital Research Institute. In addition, Muscular Dystrophy Association is funding grants to enhance understanding of disease mechanisms for ALS, Emery-Dreifuss muscular dystrophy, and congenital myopathies via funding the following projects: "Investigating a link between ER stress and nucleocytoplasmic transport in ALS" by Dr. Chang Geon Chung at the Johns Hopkins University; Assessing the role of Fibro-Adipogenic Progenitors in EDMD" by Dr. Chiara Mozzetta at the CNT Institute of Molecular Biology and Pathology; and "Calcium regulation of ER stress and protein degradation in congenital myopathy" by Dr. Amy Hanna at the University of Queensland. Recognizing the importance of genetic diagnoses in the era of genetic medicines, Muscular Dystrophy Association is also funding technologies with the potential to improve diagnostic yield and provide better information towards treatment and clinical trial options for patients and families affected by neuromuscular diseases. The following project is its commitment to improving the diagnostic process for neuromuscular diseases: "Long-read genome sequencing to diagnose neuromuscular disorders" by Dr. Greg Cooper at HudsonAlpha Institute for Biotechnology. Muscular Dystrophy Association will also fund several alternative therapeutic strategies to treat DMD using mirabegron (FDA approved B3AR agonist currently used for treating patients with hyperactive bladders), cannabidiol (CBD) and CSF1R inhibitors (a class of drug that takes on the formation of cancer tumors). These projects will explore the value of repurposing FDA approved compounds and their potential benefit on DMD: "Mirabegron in Treating Muscle Dystrophy" by Dr. Xuhui at the University of California at San Francisco; "Cannabidiol for the treatment of Duchenne Muscular Dystrophy" by Dr. George Rodney at the Baylor College of Medicine; and 'CSF1R inhibitors as therapeutics for Duchenne Muscular Dystrophy," by Dr. Fabio Rossi at the University of British Columbia. These are just a few of the many grants that the Muscular Dystrophy Association has pledged to support. For a complete list of individual awards for this grant cycle, visit MDA.org and explore the Grants at a Glance section. About Muscular Dystrophy Association Muscular Dystrophy Association is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, Muscular Dystrophy Association has led the way in accelerating research, advancing care, and advocating for the support of our families. Muscular Dystrophy Association's mission is to empower the people we serve to live longer, more independent lives. To learn more visit mda.org and follow the Muscular Dystrophy Association on Instagram, Facebook, Twitter, TikTok, LinkedIn and YouTube. SOURCE Muscular Dystrophy Association

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Muscular Dystrophy, Emery-Dreifuss

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