For Patients

If you have scleroderma, you are not alone. The scleroderma community is made up of tens of thousands of patients and their loved ones worldwide. The SRF is here to help.

The first time many people hear about scleroderma is when they, a family member or friend are diagnosed with the disease. Scleroderma is a complex and surprisingly widespread illness, affecting as many people as more commonly recognized diseases such as multiple sclerosis and muscular dystrophy.

In addition to funding the most promising research aimed at improved therapies and a cure, the Scleroderma Research Foundation provides information that may help scleroderma patients better understand their disorder and more effectively manage its symptoms.

To learn more about the various forms and subtypes of scleroderma, please click here. This section of the Scleroderma Research Foundation’s Web site provides information for patients to educate themselves, as well as their caretakers and loved ones, about this serious disease.

Please remember, information provided on this Website and others is intended as a guide. Specific medical advice can only be provided by your health care professional.

 
 

Research News

Molecular characterization of systemic sclerosis esophageal pathology identifies inflammatory and proliferative signatures

Author: J. Taroni, V. Martyanov, C. Huang, J. Mahoney, et al
Date Published: July-2015
Source: Arthritis Research & Therapy

Esophageal involvement in patients with systemic sclerosis (SSc) is common, but tissue-specific pathological mechanisms are poorly understood. There are no animal scleroderma esophagus models and esophageal smooth muscle cells dedifferentiate in culture prohibiting in vitro studies. Esophageal fibrosis is thought to disrupt smooth muscle function and lead to esophageal dilatation, but autopsy studies demonstrate esophageal smooth muscle atrophy and the absence of fibrosis in the majority of SSc cases. Herein, we perform a detailed characterization of SSc esophageal histopathology and molecular signatures at the level of gene expression.

Partially Evoked Epithelial-Mesenchymal Transition (EMT) Is Associated with Increased TGFβ Signaling within Lesional Scleroderma Skin

Author: Joanna Nikitorowicz-Buniak, Christopher P. Denton, David Abraham, Richard Stratton
Date Published: July-2015
Source: PLoS One

The origin of myofibroblasts in fibrotic conditions remains unknown and in systemic sclerosis (SSc) it has been proposed that activation of local fibroblasts, trans-differentiation of perivascular or vascular cells, recruitment of fibrocyte progenitors, or epithelial to mesenchymal transition (EMT) could be contributing. Data from our laboratory indicate that the epidermis in scleroderma is activated with the keratinocytes exhibiting a phenotype normally associated with tissue repair, including phosphorylation profiles indicative of TGFβ signaling. Since TGFβ is a known inducer of EMT, we investigated if there is evidence of this process in the SSc epidermis. In order to validate antibodies and primers, EMT was modeled in HaCaT cells cultured in the presence of TGFβ1.

Incidence and predictors of cutaneous manifestations during the early course of systemic sclerosis: a 10-year longitudinal study from the EUSTAR database

Author: E. Wirz, V. Jaeger, Y. Allanore, G. Riemekasten, E. Hachulla, O. Distler, et al
Date Published: July-2015
Source: Annals of the Rheumatic Diseases

To longitudinally map the onset and identify risk factors for skin sclerosis and digital ulcers (DUs) in patients with systemic sclerosis (SSc) from an early time point after the onset of Raynaud's phenomenon (RP) in the European Scleroderma Trials and Research (EUSTAR) cohort.

Biomarkers of pulmonary hypertension in patients with scleroderma: a case – control study

Author: Z. McMahan, F. Schoenhoff, J. Van Eyk, F. Wigley, and L. Hummers
Date Published: July-2015
Source: Arthritis Research & Therapy

Significant pulmonary vascular disease is a leading cause of death in patients with scleroderma, and early detection and early medical intervention are important, as they may delay disease progression and improve survival and quality of life. Although several biomarkers have been proposed, there remains a need to define a reliable biomarker of early pulmonary vascular disease and subsequent development of pulmonary hypertension (PH). The purpose of this study was to define potential biomarkers for clinically significant pulmonary vascular disease in patients with scleroderma.

Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways

Author: Lara Bossini-Castillo, Elena López-Isac, Javier Martín
Date Published: July-2015
Source: Journal of Autoimmunity

Systemic sclerosis (SSc) is a clinically heterogeneous connective tissue disorder of complex etiology. The development of large-scale genetic studies, such as genome-wide association studies (GWASs) or the Immunochip platform, has achieved remarkable progress in the knowledge of the genetic background of SSc. Herein, we provide an updated picture SSc genetic factors, offering an insight into their role in pathogenic mechanisms that characterize the disease. We review the most recent findings in the HLA region and the well-established non-HLA loci. Up to 18 non-HLA risk factors fulfilled the selected criteria and they were classified according to their role in the innate or adaptive immune response, in apoptosis, autophagy or fibrosis.

News for Patients

Enrollment Begins in Cytori U.S. Phase III/Pivotal Scleroderma Trial

 

Author: CytoriDate Published: August-2015
Source: Business Wire

Cytori Therapeutics, Inc. (NASDAQ: CYTX) today announced the launch of its U.S. phase III/pivotal trial to study the efficacy of its ECCS-50 cellular therapeutic in patients with scleroderma associated hand dysfunction. In July 2015, Cytori received follow-on U.S. FDA investigational device approval for recent updates to the Celution® System, which is being used in the STAR trial. The updates include recent technologic advances such as enhanced software code that substantially improves the efficiency of the bedside therapeutic manufacturing process for ECCS-50.

Medical nutrition therapy for patients with advanced systemic sclerosis (MNT PASS): A pilot intervention study

Author: Doerfler B, et al
Date Published: August-2015
Source: MedLinx

The objective of this study was to demonstrate the feasibility and associations with short–term outcomes of a medical nutrition therapy (MNT) intervention in patients with systemic scleroderma (SSc). Individually tailored MNT can improve symptom burden and potentially ALH in patients with SSc involving the GI tract. This study underscores the clinical potential of multidisciplinary patient management and the need for larger nutrition intervention trials of longer duration in these patients.

Autoantibody status fails to predict death risk in systemic sclerosis with PAH

Author: Lucy Piper
Date Published: August-2015
Source: News Medical

Anticentromere and isolated nucleolar autoantibodies are prevalent in systemic sclerosis (SSc) patients with pulmonary arterial hypertension (PAH), but they do not predict survival, US research shows. “Our data demonstrate that although antibodies are associated with PAH development and time to PAH diagnosis, none of the SSc-specific serum autoantibodies were predictive of mortality”, report Monique Hinchcliff (Northwestern University Feinberg School of Medicine, Chicago, Illinois) and colleagues.

VTE Risk Tripled in Systemic Sclerosis

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

Patients with systemic sclerosis (SSc) have an overall threefold increased risk of venous thromboembolism (VTE), with the highest risks being seen during the first year after diagnosis, a Canadian population-based study found. Compared with the non-SSc population, patients with the disease had hazard ratios of 3.47 (95% CI 2.14-5.64) for VTE, 3.73 (95% CI 1.98-7.04) for pulmonary embolism (PE), and 2.96 (95% CI 1.54-5.69) for deep vein thrombosis (DVT), after adjusting for all potentially confounding variables, according to J. Antonio Avina-Zubieta, MD, PhD, of the University of British Columbia in Vancouver, and colleagues.

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.

Ways to Give

There are many ways that you can support the work of the Scleroderma Research Foundation. We are grateful for your commitment to helping the SRF fund research that will result in improved therapies and, ultimately, a cure.

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