Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, National Institutes of Health

ONGOING PROJECT 1: Discovering new genetic risk factors for dermatomyositis

Cure JM has supported a pilot study of whole genome association scanning in order to help in the discovery of new genes and potential pathways involved in the development of dermatomyositis in children and adults. This project has been led by Dr. Frederick Miller, M.D., Ph.D. , Dr. Peter Gregersen, Director of the Robert S. Boas Center for Human Genomics at the Feinstein Institute for Medical Research and a leader in gene discovery in autoimmune diseases, and MYOGEN, a collaborative group of many of the major myositis researchers from the United States and Europe. Cure JM’s funds have enabled the typing of the DNA from almost 200 juvenile dermatomyositis patients of 1100 samples typed to date. Preliminary results suggest a number of possible genetic loci spanning a number of different chromosomal regions, including several previously unidentified genetic risk factors for myositis. These results are in need of replication in order to confirm and be certain of the findings. Currently MYOGEN is attempting to locate DNA samples from 1100 additional juvenile and adult dermatomyositis patients (several hundred DNA samples from JDM patients have now been identified), and raise the funds needed for Dr. Gregersen to type these samples. This replication phase should provide more definitive knowledge of the major genetic risk factors for juvenile and adult dermatomyositis and possibly lead to understanding new pathways to disease and novel therapies in the future.

ONGOING PROJECT 2: Understanding outcomes of juvenile myositis

Cure JM has also funded a project related to examining long term outcomes of juvenile myositis and the effects of different treatments for juvenile myositis on long term outcomes. For this project, Cure JM has extended funding to Dr. Peter Lachenbruch, Professor of Public Health and Statistics at Oregon State University and the immediate past president of the American Statistical Association, who has more than 15 years experience researching juvenile and adult myositis. The work, to date, has resulted in the finalization of the validation of the Myositis Damage Index, a tool that assesses longstanding changes from previously active disease, a description of the frequency and types of damage present in JDM patients who are more than 5 years from diagnosis, and predictors of damage in patients with myositis. Dr. Lachenbruch’s work has also resulted in studies of risk factors for the development of calcinosis, and the effects of initial treatments on long term damage. Several publications have already resulted from this work, which remains in progress:

Published papers:

  1. Rider LG, Lachenbruch PA, Monroe JB, Ravelli A, Cabalar I, Feldman BM, Villalba ML, Myones BL, Pachman LM, Rennebohm RM, Reed AM, Miller FW, for the International Myositis Assessment and Clinical Studies Group (IMACS). Damage Extent and Predictors in Adult and Juvenile Dermatomyositis and Polymyositis Using the Myositis Damage Index. Arthritis and Rheumatism, 2009;60(11):3425-3435.
  2. Lachenbruch PA, Miller FW, Rider LG. On Determining the Effects of Therapy on Disease Damage in Non-randomized Studies with Multiple Treatments: A study of Juvenile Myositis.” Comm. In Statist. - Theory and Methods. 2009, 38: 3268-3281.

Published abstracts:

  1. L Rider, P Lachenbruch, L James-Newton, I Cabalar, B Feldman, A Ravelli, B Myones, R Rennebohm, L Pachman, M Villalba, E Adams, C Lindsley, C Wallace, L Zemel, A Reed, F Miller, for the IMACS Group Predictors of Calcinosis in Juvenile and Adult Myositis. Arthritis and Rheumatism. 2008; 58 (suppl): S230.
  2. L. Rider, P. Lachenbruch, L. James-Newton, I. Cabalar, B.M. Feldman, A. Ravelli, B. Myones, R. Rennebohm, L. Pachman, M. Villalba, E. Adams, C. Lindsley, C. Wallace, S. Ballinger, L. Zemel, A. Reed, F. Miller, IMACS Group Effects of Treatment on Disease Damage in Juvenile and Adult Myositis . Arthritris and Rheumatism, 2008; 58S, S229.