Scleroderma is a rare and complex disease. Although its consequences are sometimes minor, in other cases they are catastrophic. Localized scleroderma affects only the skin, while systemic forms attack the lungs, intestinal tract, blood vessels, kidneys, and other organs. In the quest for effective treatment and an eventual cure, research is key.
“The reason scleroderma has been unsolved is its complexity,” says Dr. Maria Trojanowska, director of the Arthritis Center, and a top researcher in scleroderma at Boston University School of Medicine. “It involves three major systems: the immune system, the vascular system, and the body’s fibrous connective tissue. At Boston University School of Medicine our research in each of these areas is very strong.”
Boston University School of Medicine’s Scleroderma Program is one of the world’s leading centers of scleroderma treatment and research.
Scleroderma, which means literally “hard skin,” is an autoimmune disease, similar to lupus and rheumatoid arthritis. The thickening of the skin or accumulation of scar tissue is caused by increased production of collagen and other proteins, which occurs when the immune system attacks the body.
Scleroderma affecting the skin can be painful, disabling and disfiguring. When the same scarring process occurs in internal organs, the consequences are even more serious. One quarter to one third of individuals with the disease have the more serious diffuse systemic form.
With major support from the National Institutes of Health and the Scleroderma Foundation—and the help of donations from patients and friends—investigators at the medical school are making great strides toward understanding and overcoming this disease.
There are many reasons for patients and their families to be hopeful, according to investigators at the Scleroderma Program, which is based in the medical school’s Arthritis Center. With recent advances in treatment and care, patients can expect to live longer and more productive lives. Research holds the promise of increasingly effective treatments.
“There is not a cure today, but the disease is treatable and sometimes can go into remission, leaving little visible or functional damage,” says Dr. Robert Simms, head of the medical school’s clinical research into scleroderma.
An international center for research and treatment
As an internationally-recognized treatment facility for scleroderma, the Scleroderma Program draws patients from all over the world. The center treats between 300 and 400 new patients every year and records some 1,000 and 1,200 visits annually.
This large patient population makes possible much of the medical school’s ground-breaking clinical research. Pharmaceutical companies looking to test novel therapies come to the Scleroderma Program because of the many patients with this rare disease seen at BU who are willing to participate in therapeutic trials. In turn, the opportunity to participate in trials with novel therapies attracts more patients.
Researchers in the Scleroderma Program collaborate with investigators in other departments and disciplines at Boston University. Because the two most life threatening complications of scleroderma are scarring of the lungs and pulmonary hypertension, scleroderma researchers collaborate closely with the School of Medicine’s Pulmonary Center, one of the world’s leading research programs into diseases of the lung.
New tests for novel therapies
Researchers in the Scleroderma Program and elsewhere have identified biomarkers for the disease—substances found in the body that indicate the presence and severity of scleroderma. While these biomarkers cannot yet be used for early diagnosis, they have proven highly useful for predicting the likely course of the disease in patients and for testing the effectiveness of drugs.
A research team is now conducting a major National Institutes of Health–funded trial of a promising new anti-fibrotic scleroderma drug using biomarkers. The time and expense involved in clinical trials are greatly reduced when biomarkers are used. Traditional drug trials involve placebo-controlled testing, and many years are required before the effects of the drugs on patients are known. With biomarkers, the effectiveness of a drug can be determined in a matter of months.
Other researchers in the Scleroderma Program are studying the basic science of the disease. The program has become a magnet for young scientists, who learn from our experienced teams and then take their expertise back to laboratories, hospitals, and clinics across the United States and the world.
“Training the next generation of researchers is part of our core mission,” says Dr. Simms.
Supporting research into a rare disease
Scleroderma affects about 300,000 individuals in the United States. It is most common among adult women, although it can strike children and adults of both sexes.
Because scleroderma is rare, large government agencies and foundations do not offer the support for scleroderma research that they do for campaigns against better-known diseases. For progress to continue in the fight against scleroderma, philanthropic support is critical.