Scleroderma Center
Scleroderma Center
Banking of Biological Samples and Collection of Clinical Data for Connective Tissue Disease (CTD) Research: Connective tissue diseases are chronic diseases that involve damage of connective tissues such as the lining of the joints, blood vessel walls, muscle, skin, and certain internal organs. These diseases are also known as autoimmune diseases because the body's immune system mistakenly attacks its own tissues. Treatment has improved over the past 20 years, but there is still much that is not understood about the complications, causes, and treatments of these diseases. The purpose of this project is to set up and maintain a Rheumatology Biological Specimen Bank of blood and tissue samples and a parallel Research Databank of computerized medical information. For example, we are interested in obtaining and banking blood and skin samples (from biopsies) on patients with scleroderma. Inclusion Criteria: all ages, male or female, diagnosed by a doctor within the Department of Rheumatology with a CTD or a normal healthy individual willing to provide a blood or skin sample.
For more information on this study, please contact our Research Coordinator, Mary Lucas, at 412-383-8699 or mrl6@pitt.edu
PHAROS: Pulmonary hypertension (PH) is increased blood pressure in the arteries supplying the lungs. In Scleroderma patients, this is caused by thickening of these arteries. It is one of the more serious complications of Scleroderma. Patients with early PH may have little warning before they develop severe shortness of breath (which is called dyspnea). The tests doctors commonly order now don't always catch the early warning signs, but they are the best tests currently available. This study will follow Scleroderma patients who are at risk to develop PH and those who have been diagnosed recently with PH. Investigators will gain a better understanding of who is likely to develop PH and their response to different therapies. This study will hopefully lead to earlier treatment or possibly prevention of PH. There are currently 15 Scleroderma research centers in the United States, including the University of Pittsburgh, enrolling adult patients with limited or diffuse Scleroderma into the PHAROS Registry. Patients who consent will provide information from Scleroderma-related medical records for the duration of this 5 year study. They will provide a single blood sample for research. They will complete questionnaires every 6 months (or more frequently if necessary), which can be sent by mail, or can be done on-line. Medical records will be collected every time patients undergo standard tests and procedures such as pulmonary function tests or echocardiograms. The information collected by this Registry will be used to develop a standard for diagnosing and treating one of the most serious complications people with Scleroderma encounter.
For more information on this study, please contact our Research Coordinator, Dana Ivanco, at 412-648-7040 or des2@pitt.edu.
PRESS: Scleroderma is an uncommon autoimmune disease. There are two major forms of scleroderma, limited and diffuse. Limited scleroderma has skin thickening limited to the hands, arms and face and may affect the internal organs. Diffuse scleroderma usually progresses more quickly, and can have skin thickening of the entire body and involvement one or more internal organs, such as kidneys, esophagus, heart and lungs. This is an observational study of patients diagnosed by a rheumatologist with diffuse scleroderma within the last 2 years. An observational study is one in which individuals are observed and/or certain outcomes are measured but no experimental treatment procedures are done. There are currently 10 Scleroderma research centers in the United States, including the University of Pittsburgh, enrolling adult patients with early diffuse Scleroderma into the PRESS Registry. Patients who consent will provide information from Scleroderma-related medical records for the duration of this long term study. They will provide blood samples for research at each yearly clinical visit. They will complete questionnaires every 6 months (or more frequently if necessary), which can be sent by mail, or can be done at their regularly scheduled clinic visit. The Centers hope that by working together we can advance research faster.
Systemic Sclerosis Twin Study: This research is being done to determine the role that environmental and inherited factors play in the development of systemic sclerosis (SSc) or Scleroderma. Several studies suggest the role of environmental factors as 'triggers' for SSc. In addition, familial cases of SSc are rare yet SSc occurs in siblings of SSc subjects more frequently than in the general population. The study of twins is the "gold standard" for determining whether a disease is due to shared genes or shared environmental factors. The logic behind the approach is that if inheritance is important in the development of a disease, then one would expect identical twins to both develop the disease since they both inherit the same sets of genes from their parents. If only one twin of an identical twin pair develops the disease, then the disease is not primarily due to inherited genes and is more likely due to environmental factors and/or genetic changes that occur after birth. For this study we are enrolling both identical and fraternal twins in which one or both twins have SSc.
For more information on the Systemic Sclerosis Twin Study, please contact our Research Coordinator, Maureen Laffoon, at 800-603-8960 or laffoonm@pitt.edu.
Rituximab (Rituxan) Study: Rituxan is an immune suppressing drug currently used by hematologists for certain malignancies such as lymphoma. It is also approved for use in rheumatoid arthritis. Rituxan eliminates B cells from the blood stream. These cells participate in immune responses and may be responsible for some types of immune injury to tissues in patients with rheumatoid arthritis, lupus, and other related diseases, including Scleroderma. It is given by vein twice, two weeks apart. This study is directed at Scleroderma patients who have confirmed pulmonary arterial hypertension (PAH or high blood pressure in the lungs) for less than 3 years, regardless of how much skin thickening they have. Half of the patients will receive Rituxan and half placebo. A right heart catheterization both before the study (to determine eligibility) and after 6 months on treatment (or placebo) is required. Other PAH medications can be continued throughout the study. Patients will be followed for 1 year or until the B cells in their blood have returned.
For more information on this study, please contact our Research Coordinator, Dana Ivanco, at 412-648-7040 or des2@pitt.edu.
DUAL-1: Digital Ulcers with macitentan in systemic sclerosis: The purpose of this clinical research study is to evaluate the safety and effectiveness of macitentanfor digital ulcersin patients with scleroderma. Macitentan is a new drug that works by blocking the effect of a substance called endothelin, which is produced in increased amounts in patients with systemic sclerosis. Endothelin causes blood vessels to narrow (constrict) and results in overgrowth of the muscle in the walls of the blood vessels in the hands. By blocking the action of endothelin, macitentan may prevent the build-up of scar tissue in the walls of the blood vessels and improve blood flow to the fingers, eventually leading to a reduced number of new digital ulcers and improved hand function.
The study medication, macitentan, belongs to the same class of drugs as bosentan (Tracleer™). In Europe, bosentan is also indicated to reduce the number of new digital ulcers in patients with systemic sclerosis and ongoing digital ulcer disease. To date, no studies have been conducted with macitentan for the treatment of digital ulcers. This study will evaluate the effect of macitentan therapy on the development of new digital ulcers and hand function.
For more information on this study, please contact our Research Coordinator, Dana Ivanco, at 412-648-7040 or des2@pitt.edu.
Tocilizumab (Actemra):
Actemra is an immune suppressive agent directed against interleukin 6, a pro-inflammatory cytokine, which turn on T-cells (t-cells we know are important in scleroderma pathogenesis) This drug is already FDA approved for the treatment of rheumatoid arthritis and juvenile arthritis in the United States and 80 other countries The purpose of this study is to study the safety and efficacy of a subcutaneous, or injectable form of Actemra in patients with diffuse scleroderma of less than 5 years duration. Half of the patients will receive Actemra, and half placebo. Patients will take the drug once weekly for 48 weeks in this study.
For more information on this study, please contact our Research Coordinator, Dana Ivanco, at 412-648-7040 or des2@pitt.edu.
Pomalidomide: Pomalidomide is a type of drug that has the potential to reduce fibrosis (formation of excessive tissue in the body). Fibrosis is related to interstitial lung disease, as well as other related to SSc. Pomalidomide is currently being studied in a number of diseases, including different types of cancers, but has not been approved by the United States Food and Drug Administration (FDA). The purpose of this study is to study the safety and efficacy of a daily oral form of Pomalidomide in patients with diffuse scleroderma of less than 5 years duration and interstitial lung disease. Half of the patients will receive Pomalidomide, and half placebo. . Patients will take the drug once daily for 52 weeks in this study.
For information on this study at our Center, please contact our Research Coordinator, Dana Ivanco, at 412-648-7040 or des2@pitt.edu.
You can also read about the study here.
Ultrasound Detection of Tendon Pathology in Systemic Sclerosis (SSc):
This study is being conducted to improve our ability to evaluate tendon involvement in scleroderma. Patients with scleroderma can have pain and inflammation in the joints and tendons. Tendons are tough bands of tissue that form an attachment between muscles and bones. Tendons can be damaged from inflammation or scarring, leading to tendon damage. A way to visualize tendon damage is to use ultrasound imaging. In this study, we are studying persons with scleroderma and healthy persons who will serve as "controls". We hope to better understand the process of tendon injury that occurs in scleroderma and its significance in relation to other symptoms of scleroderma. We think that ultrasound will be able to detect tendon problems earlier than can be done with examination of your joints and tendons by a physician. Earlier detection will allow for earlier treatment of tendon-related problems.
We are inviting our current and new adult scleroderma patients to participate. The study can be scheduled for the day of your next clinic appointment or on a separate day and would be done in the Arthritis and Autoimmunity Center (Falk Medical Building) clinic. It would take about one hour or less. You would be required to sign a consent form, and then have a joint and tendon examination by a physician followed by examination using ultrasound imaging. Ultrasound is a very safe technique that has been used for many years to detect problems in the heart, abdominal organs, breasts, lymph nodes, etc. There are no special instructions before or after the test.
For more information on this study, please contact our Research Coordinator, Dana Ivanco, at 412-648-7040 or des2@pitt.edu.
Antinuclear Antibodies in Childhood Onset Scleroderma and the Development of a National Childhood Onset Scleroderma Registry (NRCOS): Experts agree that reports on childhood onset scleroderma, both the systemic and localized forms, are limited by small numbers of subjects, that few valid conclusions can be made based on such studies, and that research progress on this group of disorders has thus been hindered. The purpose of this study is to establish and promote a large registry of subjects with childhood onset scleroderma to stimulate future research on this group of disorders. Researchers will also examine the serological profiles in subjects with childhood onset scleroderma and determine associations with clinical and laboratory features of this group of disorders. Inclusion criteria: males and females who were less than 16 years old at the time of their first symptoms, less than 30 years old at time of enrollment, and have a diagnosis of either systemic sclerosis or localized scleroderma, or have Raynaud's phenomena or a positive ANA level. Participants can be enrolled remotely from anywhere in the country.
For more information on this study, please contact our Research Coordinator, Christina Kelsey, at 412-692-6478 or christina.kelsey@chp.edu.
Development of Clinical Disease Outcome Measures with Biological Substudies for Localized Scleroderma (LOCUS-2): Scleroderma is an autoimmune disease of unknown etiology that is associated with skin changes including induration and hardening. The disease can occur as a systemic form (systemic sclerosis), or a localized form (localized scleroderma). Among children, localized scleroderma (LS) is much more common than systemic sclerosis. There are a few outcomes measures available for LS, however there are not standardized and used for clinical trial yet. This is an extension of a prior approved prospective multi-center study (LOCUS-1), which aimed to develop and validate clinical measures for evaluating disease activity both for clinical practice and research trials. This protocol will further standardize and refine clinical assessments. There will be two optional laboratory substudies, one to evaluate cytokine and T cell patterns during disease activity and damage, and the other to evaluate genetic markers to identify novel immunogenetic profiles specific to different types of localized scleroderma. Inclusion criteria: males and females who have a diagnosis of LS confirmed by a pediatric rheumatologist or dermatologist, who were less than 16 years old at time of disease onset and who are able to cooperate with clinical evaluation and complete the quality of life forms.
For more information on this study, please contact our Research Coordinator, Christina Kelsey, at 412-692-6478 or christina.kelsey@chp.edu.