The Muscular Dystrophy Association (MDA), the world’s leading nonprofit health agency dedicated to find treatments and cures for muscular dystrophy and other neuromuscular diseases recently announced that it will rally along with the Duchenne muscular dystrophy (DMD) community on the World Duchenne Awareness Day.
For the first time the organization is awaiting FDA approval for two drugs agents to treat the symptoms and genetic defects that lead to DMD. The organization has also announced the award of 36 new research and development funds, with a sum of about $10 million. The research projects will be focused on muscular dystrophy, ALS (amyotrophic lateral sclerosis) and conditions that limit muscle mobility and strength.
The new grants totaling $2 million will support 8 new research projects aimed at increasing the knowledge on DMD underlying mechanisms. The projects also intend to identify biomarkers associated with disease progression and improve the availability of clinical trials’ results to improve disease care and fast track new therapeutic approaches.
Identifying biomarkers for clinical trials
Four of these projects intend to identify DMD biomarkers that can help tackle disease progression and test if experimental drugs are having a clinical effect.
James Ervasti, a professor in the department of biochemistry, molecular biology & biophysics at the University of Minnesota in Minneapolis, will be working on identifying strategies of non-invasive biomarkers that can be assessed in all patients across the entire spectrum of DMD disease severity. The research team will measured metabolites in a large population of DMD patients and in mouse models of the disease. This will enable researchers to compare metabolite levels with DMD severity. The investigation may provide a new understanding of the DMD skeletal muscle dysfunction and identify biomarkers that can improve the design of clinical trials.
Yetrib Hathout, an associate professor in the department of integrative systems biology at Children’s National Medical Center in Washington, D.C., is working on the development of a biomarker panel that can be detectable in blood. The identification of these biomarkers may help physicians to monitor DMD progression and also determine drug efficacy. Moreover the potential findings from this study may shed light on DMD’s muscle degeneration molecular mechanisms.
Donghoon Lee, a research associate professor in the department of radiology at the University of Washington in Seattle, is working on the development of DMD imaging biomarkers. The team is working on the development of noninvasive magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) methods reflecting specific underlying tissue and cellular events related with regeneration and degeneration in DMD.
Rebecca Willcocks, an adjunct research assistant scientist in the department of physical therapy at the University of Florida in Gainesville is also working in the identification of DMD biomarkets using magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). The study aims to understand how DMD affects the shoulder, upper arm and forearm muscles of boys, aged between 9 and 18 years. The team also wants to understand the association between MRI and MRS evaluations in both arm muscles and arm function (reaching, grasping and moving objects).
Improving standards of care in DMD
DeWayne Townsend, an assistant professor at the University of Minnesota in Minneapolis, is investigating the role of oxygen in the heart of those affected by DMD. His research is focused on whether reductions in oxygen are harmful to the heart in DMD patients. The cells affected by the DMD genetic mutation may use oxygen less efficiently, encounter difficulty to produce energy at low levels of oxygen, and be more prone to damage after normal stress levels. The presence of a significant role for hypoxia in the progression of DMD-associated cardiomyopathy would have a impact on clinicians’ decisions on when to begin ventilation support.
Moving toward treatments
Addolorata Pisconti, a researcher from the University of Liverpool in the United Kingdom, is investigating how fibrosis and inflammation environment affects the regenerative and maintenance characteristics of muscle stem cells in DMD. The researcher intends to establish if serine protease inhibitor proteins play a role in disease mechanisms. If the results are positive they can catalyse the research and develop drug agents specially targeting serine protease activity.
Thomas Rando, a researcher at the Palo Alto Veterans Institute for Research and Stanford University in California, is developing a mouse model, also known as “reporter mouse”, that aims to detect and quantify skeletal muscles’ degeneration. Researchers will use this mouse model to investigate the ability of gene and cell therapies to alter disease progression.
Natassia Vieira, a researcher at Biosciences Institute, University of São Paulo in Brazil, is examining a genetic method that seems to compensate the genetic mutations that cause DMA. She will investigate the overexpression mechanisms of Jagged1 a protein that is known to protects fish and dogs that carry a mutation causing DMD from displaying the usual symptoms and disease progression.
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