The SisSLE (Sisters of Women with Systemic Lupus Erythematosus) research study is looking for sisters: one with a diagnosis of systemic lupus erythematosus (SLE), an autoimmune disease and one (or more) who does not have lupus. Betty Diamond, MD, and Peter Gregersen, MD, designed the study to understand how individuals may progress to lupus. By following sister(s) of a lupus patient the hope is to identify the disease in its earliest, pre-symptomatic stage and track its progression over time. The pilot study will enroll 400 sisters over a 2-year period. Scientists will be able to identify auto-antibodies that play a role in lupus and study other changes in blood serum that may help predict disease. They will also be trying to figure out how auto-antibodies may interact with environmental factors to play a role in the development of lupus.
Lupus is nine times more common in women and the autoimmune disease can attack many different organs and tissues of the body. Lupus has a significant genetic component. The risk of developing SLE is .1 percent in the population and twice that in females. In first degree relatives the risk can be from 4 to 8 percent.
The Feinstein’s Dr. Diamond, a world-renowned lupus researcher and director of the Center for Autoimmune and Musculoskeletal Disorders, is teaming up with geneticist Peter K. Gregersen, MD, who is director of the Robert S. Boas Center for Genomics and Human Genetics. They want to understand how people progress from the start of the autoimmune process to end up with severe disability. What scientists know about the epidemiology of the illness is this: If they follow 4,000 sisters with a sibling with lupus that 80 of them will develop the autoimmune disease at some point in their lives. They also know that some sisters with anti-DNA antibody in their blood will never get lupus. The question is why. Ultimately they want to figure out who those people are and whether the auto-antibodies in their blood can reveal something about why they got sick or not. Then, what if they can begin treating people at risk for lupus before the disease causes organ damage? Could they stave off more serious symptoms and provide people with a better quality of life? They are hoping that this study will be able to help fit these puzzle pieces together.
This study will be a collaborative effort nationwide. There may be more than half a million lupus patients and more than half will have been diagnosed before their 35th birthday. By crude estimates, it means that there are 300,000 people who got lupus in their 30s. If 70 percent have a sister that means that they have a population of 200,000 potential recruits for the study. They are ultimately looking to recruit 4,000 sisters. The plan is to also mine the genome to identify genes that put families at risk and start to link the various genes to the different symptoms of the disease.
The sisters who have anti-nuclear antibodies but no signs of disease will also help tell the story of how the body’s immune system fends off this autoimmune disease. Can they identify markers of progression to disease? Who will get lupus and when? “The healthy person will help us understand the disease,” Dr. Diamond said.
Women who were diagnosed with lupus between the ages of 10 and 35 are invited to join the study if they have a sister or sisters (also between the ages of 10 and 35) without a diagnosis of lupus. Half-sisters are welcome to join the SisSLE study as well. For more information call Bonnie Gonzales, RN, or Sally Kaplan, RN, at 877-698-9467 or email SisSLE@nshs.edu or visit the website www.SisSLE.org.
Contact: Jamie Talan, science writer-in-residence