Cure JM Currently Funded Research and Programs
NCATS Drug Development Program
Jim Inglese, Ph.D. Principal Investigator, Division of Pre-Clinical Innovation at National Center for Advancing Translational Sciences (NCATS), National Institutes of Health
Cure JM has invested in a 3-year drug development program at NCATS led by Jim Inglese, Ph.D. Cure JM's funding supports the team's efforts to screen hundreds of thousands of new drugs, as well as existing drugs currently used in the treatment of other diseases, to determine their possible usage in the treatment of JM. They will then perform follow-up studies on the most promising drugs, with a goal of developing a short list of new and re-purposed drugs that have the potential to improve the prognosis for JM patients.
Novel Genomics Study in Juvenile Dermatomyositis
Paul J. Norman, Ph.D. Senior Research Scientist, Department of Structural Biology, Stanford School of Medicine
Dr. Norman is investigating the entire HLA genomic region using a new and powerful method he developed that will shed new light on the genetics of JM. Previously uncharacterized genes may interact with HLA genes to become risk factors for disease. Proper understanding of these risk factors opens the door for new diagnostic indicators, treatment targets and, in the long-term, prevention of the disease through directed gene-therapy approaches.
Interferons in Juvenile Dermatomyositis: Pathogenic Role and Correlations with Disease Characteristics at Onset and Long-Term Course
Rebecca Nicolai, M.D. Division of Rheumatology, Bambino Gesu Hospital, Rome, Italy
Dr. Nicolai aims to measure type I and type II interferon gene expression in JDM muscle, potentially leading to the discovery of additional biomarkers to measure disease activity. This is important because the pathogenesis of JDM is not understood, although it is likely that aberrant interferon expression plays a major role. If so, this could open up the possibility for new drug treatments that inhibit interferon expression in JM.
Heterogeneity of Juvenile Myositis, with a Focus on Therapies and Responses
Takayuki Kishi, M.D., Ph.D. Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, National Institutes of Health
Dr. Kishi's goal is to investigate clinical response to therapies in patients with JDM from a large JM registry. He will examine the impact of initial medications and other factors on achievement of inactive disease, complete clinical response, and remission. He will also compare different treatment regimens and examine differences in their response rates. These analyses should provide new information on response rates to therapies and predictors of responses to therapies in JDM.
Physical Activity Monitors as Outcome Measures in Juvenile Myositis
Emily Brunner, D.O. Pediatric and Adult Rheumatology Fellow, University of Pittsburgh Medical Center, Division of Rheumatology and Immunology
In this pilot study, Dr. Brunner is evaluating the use of Personal Activity Monitors (Fitbits) as a validated measurement tool for physical activity and strength measurement among JM patients. This easy to use tool could be used as a supplement to existing scoring measures and could provide better outcome measurement of a patient's physical function and response to treatment.
Validation of Patient Reported Outcomes Measurement Information System (PROMIS) in Juvenile Myositis
Kaveh Ardalan, M.D., M.S. Attending Physician, Division of Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago; Instructor of Pediatrics and Medical Social Sciences, Northwestern University Feinberg School of Medicine
Dr. Ardalan's study aims to validate the use of PROMIS (Patient Reported Outcomes Measurement Information System) to improve Quality of Life data collection. This long-term longitudinal data is needed to assess emotional distress, pain, fatigue, and physical function allowing clinicians to better target interventions —pharmacologic, exercise-related, or psychological. This information would enable JM patients who are struggling with disease management to be more easily identified for intervention.
The Use of Metabolomics to Develop Novel Biomarkers for Juvenile Dermatomyositis
Jeffrey A. Dvergsten, M.D. Assistant Professor of Pediatrics, Duke University School of Medicine
Dr. Dvergsten aims to identify aberrant patterns of metabolite expression in blood and muscle of children with JDM to develop new biomarkers for help in diagnosis, assessment of disease activity and response to treatment in JM.
Novel Biomarkers associated with Disease Activity in JDM
Hanna Kim M.D. Fellow, Division of Pediatric Rheumatology Children's National Medical Center and National Institutes of Health
In order to expand biomarker analysis to broad proteomic analysis, she is replacing cytokine analysis from her previous grant. The new SomaLogic platform will replace the previously proposed platform called Luminex and is much more likely to successfully identify a new biomarker in JDM without requiring more blood samples.
Genetic Risk Factors in Juvenile Dermatomyositis
Claire Deakin M.D. Post-Doctoral Fellow at University College, London
This grant which will enable inclusion of North American samples to enhance the statistical power of her study. The project will study genetic risk factors for JDM using samples from a large number of North American and UK patients with JDM. By studying large numbers of patients, this project may also be able to study genetic risk factors for developing specific features, such as the formation of calcium deposits. It will also help us find out whether the age patients are when they get disease influences the role of genetic differences in JDM or its subgroups. The biological effect of these genetic differences will also be studied in order to help us understand the cause of disease better. This research may lead to more information about the causes of JDM and why certain patients develop certain features.
Plasma Exosomes in Juvenile Dermatomyositis
James Jarvis M.D. Professor of Pediatrics from the University of Buffalo, NY
JDM is a disease with extensive inflammation in blood vessels. Exosomes are found in considerable numbers in the circulation, and are a means through which cells communicate with one another Dr. Jarvis is trying to understand how blood vessels become injured in JDM, as he thinks it's how the muscle injury starts. He will culture exosomes from children with JDM with blood vessel cells and determine how the small RNA molecules disturb the regulation of genes in the blood vessel cells. By comparing what is seen with JDM exosomes to the exosomes of healthy children, we will have new ways to understand how blood vessels are injured in JDM.
Complement C4 in Disease Risk and Pathogenesis of Juvenile Dermatomyositis
This study will analyze whether variations of C4A genes and changes of C4 proteins can be used to reveal the severity of JDM and how the illness may develop. The research team will analyze hundreds of DNA samples from JDM patients and healthy subjects. They will use cutting-edge techniques to perform experiments -some of the techniques were originally designed by this research team, who are pioneers in the research field of immune genetics. They hope, through their research, to be able to develop better and more specific ways to diagnose and treat the disease, and hopefully to find a cure in the future.
Physician Education Program
Dr. Megan Curran, Attending Physician, Division of Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago; Assistant Professor, Northwestern University Feinberg School of Medicine; Program Director, Northwestern/McGaw Pediatric Rheumatology Fellowship Program
Cure JM Foundation funded a multi-stage project to educate physicians about JM across North America. The goal is to help physicians diagnose JM faster so that patients can begin treatment without delay. The first part of this project was a survey of 400 JM families to better understand the patients’ symptoms and path to diagnosis. The second part of this project was an E-newsletter sent to 10,000 pediatricians to help educate them about the signs and symptoms of JM so they can make an accurate and timely diagnosis. The pediatricians receive CME credit (Continuing Medical Education) for reading it and taking a short test afterwards. CME credits are required in most states for physicians to keep their medical licenses. The next stage of this project will be developing and delivering materials to pediatricians with images of the primary signs/symptoms of JM.
Novel Biomarkers Associated with Disease Activity in JDM
This study will compare and contrast serum markers and gene expression patterns in JDM with those of other closely related disorders (CANDLE and SAVI) with the hopes of better understanding the cause(s) of JDM and possible treatments. The study also intends to identify dysregulated pathways in JDM using RNA-Sequencing to improve biomarkers related to disease activity. By developing a better biomarker, the research team hopes to better predict who will respond to a particular therapy, indicate when to stop and start therapy and develop more JDM-specific therapies in the future.
Predictive Model of Disease Outcomes using Computational Biology Modeling in Children with Inflammatory Muscle Disease
Research study at the Mayo Clinic to determine associations between disease outcomes and various features of JDM, which may lead to the prediction of which patients would benefit from particular treatment choices.
Lymphocyte Repertoire in Juvenile Dermatomyositis
Research study at Boston Children's Hospital using "next generation sequencing" to study detailed T & B cell differences in JDM. This should lead to a better understanding of changes in the immune system, which may help to advance the understanding of JDM and improve future outcomes.
Premature Atherosclerosis in Juvenile Dermatomyositis
Research study at Children's Hospital at Montefiore that aims to identify which risk factors may be the most significant indicators of early heart disease in children with JDM.
Simultaneous Genomics and Microbiotica Phenotyping in Juvenile Dermatomyositis (JDM)
Long Term Aim: To identify specific oral and fecal microbial communities in JDM that may be targeted in future therapeutic trials. The influences of susceptibility genotypes for known immune function genes and dietary elements known to alter the microbiome will be characterized to provide the rationale for future diagnostic and therapeutic trials.
Cure JM Program of Excellence in Juvenile Myositis Research at Stanley Manne Children’s Research Institute of Ann & Robert H. Lurie Children’s Hospital of Chicago
Dr. Lauren Pachman, the Principle Investigator and Director, has cared for over 550 children with JDM and other forms of inflammatory myopathy. Dr. Pachman has patients who travel from around the country to see her for a diagnosis and/or treatment. She is also called upon for consults and referrals from other doctors. Her team is working to discover the biomarkers of JM activity to guide the utilization and/or creation of more effective therapies. They have already identified a variety of genetic and environmental factors that not only play a role in the onset of symptoms, but also govern the child's outcome.
George Washington University Myositis Center
Multidisciplinary effort made possible by a grant from Cure JM Foundation. As a national referral site for inflammatory muscle diseases, the Center is often called upon to either establish a diagnosis or to provide a second opinion related to the management of children and adults with JM. Working in collaboration with the NIH, the Center also specializes in JM research and education.
International Consensus Conference
Myositis researchers from around the world came together to develop standard measures of “improvement” for myositis patients. These new measures are critical for research, as they will be the end goals for future myositis clinical trials. Plus, this should help facilitate future drug development for JM.
Genetic Risk Factors for Calcinosis
Research study at Stanford University utilizing previously collected blood samples to look at certain genes and potentially determine their role in the development of calcinosis
Gastrointestinal Bacterial Tract in JM Patients
Pilot study at Seattle Children’s Hospital to determine if the proliferation of oral and intestinal pathogens could lead to the activation of JM
Predictive Model of Disease Outcomes using Computational Biology Modeling in Children With Inflammatory Muscle Disease
Research study at the Mayo Clinic to determine associations between disease outcomes and various features of JDM, which may lead to the prediction of which patients would benefit from particular treatment choices
Lymphocyte Repertoire in Juvenile Dermatomyositis
Research study at Boston Children’s Hospital using “next generation sequencing” to study detailed T & B cell differences in JDM. This should lead to a better understanding of changes in the immune system, which may help to advance the understanding of JDM and improve future outcomes.
Premature Atherosclerosis in Juvenile Dermatomyositis
Research study at Children’s Hospital at Montefiore that aims to identify which risk factors may cause the greatest risk of early heart disease in children with JDM