News for Patients

Women’s Immune System Genes Operate Differently From Men’s

Author: Jennie Dusheck
Date Published: July-2015
Source: Stanford Medicine

A new technology reveals that immune system genes switch on and off differently in women and men, and the source of that variation is not primarily in the DNA.A new technology for studying the human body’s vast system for toggling genes on and off reveals that genes associated with the immune system toggle more frequently, and those same genes operate differently in women and men. Some genes are virtually always on, like the clock light on a microwave; others sit unused for years at a time, like some regrettable appliance you bought, stuffed into the back of the closet and forgot. Some genes can be always on in one person and always off in another. A minority of genes switch on and off, like a favorite cell phone app. A new technology, which makes it possible to study the molecules that regulate all of that switching in living people as they go about their lives, has revealed some intriguing surprises, according to a study from the Stanford University School of Medicine.


Dangerous Clot Risks Higher in SSc – Especially in First Year after Diagnosis

Author: Rita Baron-Faust MPH
Date Published: July-2015
Source: Rheumatology Network

Patients diagnosed with systemic sclerosis (SSc) may have a three times greater risk of venous thromboembolism (VTE) – including potentially deadly clots in the lungs – and an increased risk in the first year after a diagnosis, according to a large population database study from Canada. The study of 1,245 SSc patients (83% female, mean age 56 years old),and 12,670 matched controls in British Columbia (BC), attributes the increased risk to vascular damage from SSc-related fibrosis that causes endothelial dysfunction and hypercoagulability due to inflammation.


FDA Grants Breakthrough Therapy Designation for Actemra (tocilizumab) in Systemic Sclerosis

Author: Genentech
Date Published: June-2015
Source: Genentech

Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation status to Actemra® (tocilizumab) for systemic sclerosis, also known as scleroderma.1 This designation is intended to expedite the development and review of medicines with early signals of potential clinical benefit in serious diseases and to help ensure patients have access to them as soon as possible. Genentech has also initiated a Phase III study in systemic sclerosis (NCT02453256), a disease for which there are inadequate treatment options.3,4


Fresolimumab treatment decreases biomarkers and improves clinical symptoms in systemic sclerosis patients

Author: L. Rice, Cristina M. Padilla, S. McLaughlin, A. Mathes, J. Ziemek, S. Goummih, S. Nakerakanti, M. York, G. Farina, M. Whitfield, R. Spiera, R. Christmann, J. Gordon, J. Weinberg, R. Simms, and R. Lafyatis
Date Published: June-2015
Source: Journal of Clinical Investigation

BACKGROUND. TGF-β has potent profibrotic activity in vitro and has long been implicated in systemic sclerosis (SSc), as expression of TGF-β–regulated genes is increased in the skin and lungs of patients with SSc. Therefore, inhibition of TGF-β may benefit these patients. METHODS. Patients with early, diffuse cutaneous SSc were enrolled in an open-label trial of fresolimumab, a high-affinity neutralizing antibody that targets all 3 TGF-β isoforms. Seven patients received two 1 mg/kg doses of fresolimumab, and eight patients received one 5 mg/kg dose of fresolimumab. Serial mid-forearm skin biopsies, performed before and after treatment, were analyzed for expression of the TGF-β–regulated biomarker genes thrombospondin-1 (THBS1) and cartilage oligomeric protein (COMP) and stained for myofibroblasts. Clinical skin disease was assessed using the modified Rodnan skin score (MRSS).


EULAR: Updated scleroderma guidance focuses on new treatments, approaches

Author: Sara Freeman
Date Published: June-2015
Source: PM360

ROME (FRONTLINE MEDICAL NEWS) – Updated expert recommendations from the European League Against Rheumatism for the treatment of systemic sclerosis will focus on several new treatment options, although the use of biologic agents is not included in detail because there are still too few data on these drugs to give firm guidance on their use. The EULAR Scleroderma Trials and Research group (EUSTAR) recommendations for the treatment of scleroderma were first published 6 years ago ( Ann. Rheum. Dis. 2009;68:620-8 ) and considered data through December 2006. “Since then, a number of new drugs have become available and new and important information has been published concerning treatments already known before,” said Dr. Otylia Kowal-Bielecka of the Medical University of Bialystok, Poland, who discussed some of the main highlights of the revised recommendations (Ann. Rheum. Dis. 2015;74:90-1) at the European Congress of Rheumatology.


Tocilizumab and Systemic Sclerosis

Author: James Radke, PhD
Date Published: June-2015
Source: Rare Disease Report

t’s a busy week for Genentech and systemic sclerosis researchers. First, the US Food and Drug Administration (FDA) granted Breakthrough Therapy Designation status to tocilizumab (Actemra) for treating patients with systemic sclerosis, or scleroderma.1 The designation should expedite the development and review of tocilizumab for this rare condition. Second, data from the phase 2 study that led to the Breakthrough Designation is being presented at EULAR 2015 this week as well. The developers of tocilizumab, Genentech also announced they have begun a phase 3 study to test the safety and efficacy of tocilizumab in patients with systemic sclerosis.


Unique Microbial Signature Identified in Systemic Sclerosis

Author: Pam Harrison
Date Published: June-2015
Source: Medscape

Patients with systemic sclerosis have a distinct colonic microbiome that might contribute to clinical manifestations of the disease, according to a new study. "I see scleroderma patients exclusively in my practice, and gastrointestinal symptoms are sometimes the number one complaint," said Elizabeth Volkmann, MD, from the University of California at Los Angeles. "Patients often don't even feel comfortable disclosing these symptoms because they are so personal."


Autoantibodies May Explain Link Between Cancer and Scleroderma Onset

Author: Patricia Silva
Date Published: February-2015
Source: Scleroderma News

Researchers at Johns Hopkins University School of Medicine in Baltimore investigated the association between autoantibodies, the risk of developing cancer and the possible link between cancer and scleroderma. The study is entitled “Examination of autoantibody status and clinical features that associate with cancer risk and cancer-associated scleroderma,” and is published in the journal Arthritis & Rheumatology.


FDA Approves Expansion of Pivotal Scleroderma STAR Trial to 20 Clinical Sites

Author: Cytori
Date Published: February-2015
Source: Cytori

Cytori Therapeutics, Inc. (NASDAQ: CYTX) announced today that it received approval from FDA to expand the number of Scleroderma clinical trial sites from 12 to 20 centers in the United States. The STAR study is an 80 patient pivotal clinical trial approved by FDA in January 2015 to study the effects of Cytori’s lead drug ECCS-50 for treatment of patients with hand manifestations of Scleroderma.


New Study Summarizes Scientific Findings Concerning Scleroderma Renal Crisis

Author: Patricia Inacio
Date Published: February-2015
Source: Scleroderma News

In a recent study entitled “Scleroderma renal crisis,” the authors summarize the most recent findings related to scleroderma renal crisis, a serious but treatable complication of systemic sclerosis. The study was published in the journal Seminars in Arthritis and Rheumatism. Scleroderma (or systemic sclerosis) is an autoimmune disease characterized by skin thickening, a process known as fibrosis. Several complications associated with scleroderma are due to the fibrosis process that is actually not restricted to the skin, reaching in severe cases, internal organs such as kidneys.


7 Things You Should Know About Autoimmune Diseases

Author: Sarah Klein
Date Published: February-2015
Source: Huffington Post

As if living with chronic illness wasn't challenging enough, living with an autoimmune disease can be even more difficult. Still highly misunderstood by medical professionals and the public alike, autoimmune diseases are characterized by nebulous symptoms that can make diagnoses difficult to come by. Treatments vary, and in some cases rely entirely on behavior changes. In an effort to making living with -- or loving someone with -- an autoimmune disease just a little bit easier, here are seven important things to know about these health conditions.


Researchers Find New Small Molecule Capable of Triggering the Immune System

Author: Patricia Silva
Date Published: April-2015
Source: Scleroderma News

Researchers at the University of Colorado Boulder and Tsinghua University in China recently published in the journal Science Advances that a specific small molecule is capable of triggering an immune response, having potential biomedical applications for treating diseases such as Scleroderma. The study is entitled “Specific activation of the TLR1-TLR2 heterodimer by small-molecule agonists.”


Systemic Sclerosis Patients Are More Prone to Atherosclerosis

Author: Patricia Silva
Date Published: April-2015
Source: Scleroderma News

In a new study entitled “Subclinical atherosclerosis and peripheral vascular disease in systemic sclerosis patients: Relation to potential risk factors,” authors suggest that patients with Systemic sclerosis may have increased risk of developing subclinical atherosclerotic macro vascular disease. The team highlights that further research is necessary to tackle both the cause for increased risk of atherosclerosis and the vessel damage in the SSc patient population. The study was published in the journal The Egyptian Rheumatologist.


Actemra Looks Promising in Scleroderma

Author: Nancy Walsh
Date Published: April-2015
Source: MedPage Today

Encouraging results were seen for tocilizumab (Actemra) in the treatment of diffuse systemic sclerosis (SSc) in a proof-of-concept study, an investigator reported here. At 24 weeks, a numerically favorable response was seen on modified Rodnan skin scores among patients randomized to tocilizumab compared with those receiving placebo, with changes of -3.9 units versus -1.2 units, for a difference of -2.70 (95% CI -5.85 to 0.45, P=0.09), according to Christopher P. Denton, MBBS, of University College London.


Researchers Report Audiovestibular Dysfunction in Systemic Sclerosis Patients

Author: Patricia Silva
Date Published: February-2015
Source: Scleroderma News

Researchers at Cairo University in Egypt recently published in The Egyptian Rheumatologist journal their findings on auditory dysfunction observed in systemic sclerosis patients. The study is entitled “Otolith function assessment in patients with systemic sclerosis.” Systemic sclerosis, also known as scleroderma, is a rare, chronic autoimmune disease in which the body’s own immune system attacks healthy tissues resulting in a hardening and tightening of the skin and connective tissues. Scleroderma usually affects the skin, but it can also affect internal organs such as the lungs, blood vessels and the digestive tract, being more common among women than men.


Dartmouth Investigators Identify Key Pathways Underlying Different Subsets of Systemic Sclerosis

Author: Kirk Cassels
Date Published: February-2015
Source: Health Canal

Sorting out patients with SSc according to their shared biology, Dartmouth investigators discovered how disease heterogeneity can be defined, allowing for targeted selection of patients for clinical trials. Michael Whitfield, PhD of the Geisel School of Medicine at Dartmouth’s Department of Genetics and Norris Cotton Cancer Center, along with Post-doctoral Fellows Michael Johnson, PhD and J. Matthew Mahoney, PhD, led the research, publishing two papers: “Experimentally-Derived Fibroblast Gene Signatures Identify Molecular Pathways Associated with Distinct Subsets of Systemic Sclerosis Patients in Three Independent Cohorts” in PLoS One, and “Systems Level Analysis of Systemic Sclerosis Shows a Network of Immune and Profibrotic Pathways Connected with Genetic Polymorphisms,” in PLoS Computational Biology. Clinical collaborators include Dr. Monique Hinchcliff and Dr. John Varga of Northwestern’s Feinberg School of Medicine.


Fat Tissue May Be Key to Scleroderma's Progression

Author: Nora Dunne
Date Published: February-2015
Source: Northwestern Medicine

Northwestern Medicine scientists have discovered that scar-forming cells in scleroderma come from fat tissue within layers of the skin, a new cellular origin that could be a key to developing treatments for the incurable disease in the future. Scleroderma, also called systemic sclerosis, is a rare autoimmune connective tissue disorder in which the skin thickens and hardens, forming scar-like buildup, a process called fibrosis. Until now, scientists have not known the mechanisms responsible for tissue fibrosis.


Systolic Pulmonary Arterial Pressure Predicts Mortality Risk in Systemic Sclerosis Patients

Author: Christin Melton, ELS, CMPP
Date Published: February-2015
Source: Rare Disease Report

Findings from the multinational European League Against Rheumatism Scleroderma Trial and Research (EUSTAR) study show that systolic pulmonary arterial pressure (sPAP) is an important prognostic factor for patients with systemic sclerosis (or scleroderma). More specifically, lead author Eric Hachulla, MD, National Reference Center for Scleroderma, Department of Internal Medicine, University of Lille Nord de France, told Rare Disease Report that “an sPAP above 36 mm Hg is an independent predictive factor of death” in this patient population.


One Lucky Autoimmune Mom: Strength, Courage & Laughter

Author: Lisa Goodman-Helfand
Date Published: February-2015
Source: Autoimmune Mom

“Sometimes I worry that my disease will taint their childhoods. Then I think of what my scleroderma can teach them.” Playing games on the floor, bicycle riding, swimming, boating, hiking, running, rock climbing, surfing, skiing, scuba diving, and horseback riding; all activities my kids have asked me to do with them. Oh, how I wish that I could do all these things with my son and daughter. The reality is my autoimmune disease prevents me from enjoying these forms of recreation.


Systemic Sclerosis in Young People: Imaging Improves Diagnosis

Author: Alisa Woods
Date Published: January-2015
Source: Pulmonary Hypertension News

Radiologists are essential for diagnosis and further testing of pediatric patients with systemic sclerosis (SSc), according to a report published by researchers at the University of Washington Medical Center, Seattle. The paper, titled Multimodality Thoracic Imaging of Juvenile Systemic Sclerosis: Emphasis on Clinical Correlation and High-Resolution CT of Pulmonary Fibrosis, appeared in the February 2015 issue of the American Journal of Roentgenology. SSc is disease of the connective tissue that involves many different parts of the body. It is characterized by abnormal blood vessels (vasculopathy) and fibrosis — the thickening and scarring of connective tissue.