Johns Hopkins Scleroderma Center Research
We study every aspect of scleroderma to understand the disease, find accurate biomarkers that measure disease activity and predict outcomes, and develop new treatments to improve patients’ quality of life.
Our research is built on the Johns Hopkins Scleroderma Research Registry, a large, prospectively collected database and biospecimen repository of people with scleroderma and related autoimmune diseases. Researchers use this resource for many studies and to identify candidates for clinical trials.
If you are a patient and want to learn more about any program below, please contact Adrianne Woods at awoods9@jhmi.edu or ask your doctor at your next visit. Many of these programs are supported by gifts from patients and other donors. To contribute to research, please visit our donation site.
Scleroderma is an autoimmune disease that affects many organs and can look very different from person to person. In our Precision Medicine Program, we are building tools to make this complexity easier to understand. Our aim is to better predict each patient’s likely disease course and which treatments are most likely to help.
Current projects include:
- A patient-centered visual timeline that shows how a person’s scleroderma has affected different organs over time, and how that pattern compares with other patients. We are testing whether this tool helps patients and providers make shared decisions about care.
- New computer-based methods that predict a patient’s overall disease state, how their condition is likely to change, and the chances of specific complications. We plan to add these predictions to the visual timeline so they are easy to use during clinic visits.
- Research to detect cancer or heart, lung, muscle, kidney and other complications earlier in people with scleroderma.
Cancer Program
We are studying how cancer and systemic sclerosis (scleroderma) may be connected. Our team includes doctors and researchers from different specialties who are working together to understand this link.
Earlier work from our group found that some people develop cancer around the same time they are diagnosed with scleroderma, and in some cases the cancer may trigger the autoimmune reaction that causes scleroderma. Our current research is focused on three questions:
- How might a cancer trigger the immune system to cause scleroderma?
- Do the immune responses in scleroderma sometimes help fight cancer?
- What is the best way to look for cancer in people who have just been diagnosed with scleroderma?
We are now enrolling patients to test new methods for finding cancer early in people with new onset scleroderma.
Skin Program
Scleroderma can cause thickening of the skin, pain or discomfort in the skin, and problems with tendons in some people. To find better treatments, we study how scleroderma affects the skin at a biological level. We also run clinical trials testing new therapies for people with diffuse (widespread) scleroderma.
Cardiopulmonary Program
People with scleroderma can be at higher risk for heart and lung problems, such as pulmonary hypertension (high blood pressure in the lungs), heart failure, abnormal heart rhythms, and interstitial lung disease (scarring in the lungs). A main goal of our research is to find these complications earlier so treatments can be started when they are most likely to help.
To do this, we are testing new ways to detect heart and lung problems, including:
- Advanced heart and lung imaging (for example, special ultrasound and MRI techniques, and high-resolution CT scans)
- Tests that include exercise to see how the heart and lungs respond
- Monitoring tools patients can use at home
- Blood tests (biomarkers) that may signal early disease
We are also evaluating new treatments for heart and lung complications of scleroderma.
Vascular Program / Raynaud’s Phenomenon
Raynaud’s phenomenon (when fingers or toes turn white, blue, or painful in cold or stress) and painful sores on the fingers (ischemic digital ulcers) are common in scleroderma and can make daily life difficult. Our team studies treatments that widen blood vessels (vasodilators) to reduce Raynaud’s symptoms, improve blood flow and skin temperature, and help heal or prevent ulcers.
We also work with colleagues throughout the US and internationally to develop better ways to measure treatment benefit in clinical trials. This includes surveys patients fill out about their symptoms and new imaging tests that look at blood flow in the fingers.
Muscle Program
Some people with scleroderma develop muscle weakness. This can happen for different reasons, including inflammation, scarring (fibrosis), or other causes. Our research aims to understand these different causes so we can improve screening, choose the best treatments, and measure whether treatments are working.
What we are doing:
- Classifying the types of muscle disease seen in scleroderma and testing different treatment approaches.
- Using blood tests (biomarkers) and advanced muscle MRI scans to detect early changes and to compare muscles before and after treatment.
- Studying muscle samples taken during biopsy to learn how the disease affects muscle at the cellular level.
Our goal is to find tests that predict how muscle disease will progress and to create a classification system that helps doctors choose the right treatment for each patient.
Other Disease Features
We are studying kidney problems and calcinosis (hard calcium deposits under the skin) in people with scleroderma. Our goal is to find signs that predict who may develop these complications, and to develop better ways to detect, treat, and monitor them.
Disease mechanisms
A key goal of our research is to learn how scleroderma starts and why it worsens in some people. We are studying many kinds of biomarkers — including genes, immune system signals, and other molecular features — to see which ones are linked to the risk of developing scleroderma and specific complications (for example, cancer, lung scarring, high blood pressure in the lungs, digestive problems, and muscle disease).
Understanding these molecular processes can help us:
- Find new targets for treatments
- Identify which patients are at higher risk for certain complications
- Monitor disease activity more accurately over time
Localized Scleroderma (En Coup de Sabre)
We are studying possible genetic causes of a localized form of scleroderma called “en coup de sabre,” which usually appears as a line or groove of hard skin on the forehead or scalp. By learning whether genes play a role in this localized form, we hope to better understand all types of scleroderma and how scarring (fibrosis) develops in the skin.
Collaborations with Other Centers:
Our team leads and takes part in several multi-center studies that aim to improve how we understand, monitor, and treat people with scleroderma.
Current collaborative projects include:
- GRASP (Genome Research in African American Scleroderma Patients): Johns Hopkins is the coordinating center for this 27-site study that looks for genetic factors that may help explain why African Americans have a higher risk of developing scleroderma and certain complications. This study is done in partnership with the National Human Genome Research Institute (NHGRI/NIH).
- CONQUER: A national registry sponsored by the Scleroderma Research Foundation that collects long-term information about people with systemic sclerosis to help researchers track disease progression and treatment outcomes across many centers.
- SPIN (Scleroderma Patient Intervention Network): An international collaboration that develops low-cost, easy-to-access programs designed to improve quality of life for people with scleroderma.
- 100 DU Study: An international study to develop a new questionnaire that measure how patients cope with digital ulcers.
- CRISTAL Study: A study to develop a new questionnaire that evaluates symptoms and daily impact in people with limited and sine scleroderma, to better capture how the condition affects their health and quality of life.
