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

Clinical Trial Design Issues in Systemic Sclerosis: an Update

Author: Jessica K. Gordon, Robyn T. Domsic
Date Published: May-2016
Source: Springer Link

Systemic sclerosis (scleroderma, SSc) is a multisystem disease characterized by vasculopathy, autoimmunity, and fibrosis. SSc has the highest disease-related mortality rate among the rheumatologic illnesses. In the USA, there remains no FDA-approved therapy. As our understanding of SSc pathogenesis improves, targeted therapies interrupting key pathways and mediators will be studied in clinical trials. However, clinical trials in SSc are fraught with challenges. Validated clinical outcome measures do not exist for all disease manifestations. It can be difficult to discern disease activity from damage. SSc is highly heterogeneous, with multiple different phenotypes, and predicting who will have progressive disease is not currently well understood. Biomarkers are in early stages of development and do not represent surrogate outcomes at this time.

O27 Subcutaneous Tocilizumab in Adults with Systemic Sclerosis: 24 and 48 Week Safety and Efficacy Data from the Fasscinate Trial

Author: C. Denton, D. Khanna, A. Jahreis, J. van Laar, et al
Date Published: May-2016
Source: Oxford Journals Rheumatology

Background: Interleukin-6 (IL-6) appears to play a key role in the pathogenesis of SSc, a debilitating disease with limited treatment options. Methods: A double-blind, placebo-controlled, phase 2, proof-of-concept study of the efficacy and safety of the IL-6 receptor inhibitor tocilizumab (TCZ) (weekly s.c. injection; TCZ 162 mg vs placebo for 48 weeks) in patients ≥18 years of age with active SSc. The primary end point was a mean change in the modified Rodnan skin score (mRSS) from baseline at week 24. Change in the mRSS at week 48, patient-reported outcomes (PROs) and pulmonary function (week 48) were exploratory measures.

Frequency of circulating topoisomerase-I-specific CD4 T cells predicts presence and progression of interstitial lung disease in scleroderma

Author: A. Fava, R. Cimbro, F. Wigley, Q. Liu, A. Rosen and F. Boin
Date Published: May-2016
Source: BioMed Central

Scleroderma is an antigen-driven T cell-mediated autoimmune disease. Presence of anti-topoisomerase-I antibodies is associated with pulmonary fibrosis and predicts increased mortality. Characterization of autoreactive T lymphocytes may shed light on disease pathogenesis and serve as a biomarker for disease activity. Here, we aimed to quantify and functionally characterize circulating topoisomerase I (topo-I)-specific CD4+ T cells and to define their association with presence and progression of interstitial lung disease (ILD) in patients with scleroderma.

M10, a caspase cleavage product of the hepatocyte growth factor receptor, interacts with Smad2 and demonstrates antifibrotic properties in vitro and in vivo.

Author: Atanelishvili I, Shirai Y, Akter T, Buckner T, Noguchi A, Silver RM, Bogatkevich G
Date Published: April-2016
Source: Translational Research

Hepatocyte growth factor receptor, also known as cellular mesenchymal-epithelial transition factor (c-MET, MET), is an important antifibrotic molecule that protects various tissues, including lung, from injury and fibrosis. The intracellular cytoplasmic tail of MET contains a caspase-3 recognition motif "DEVD-T" that on cleavage by caspase-3 generates a 10-amino acid peptide, TRPASFWETS, designated as "M10". M10 contains at its N-terminus the uncharged amino acid proline (P) directly after a cationic amino acid arginine (R) which favors the transport of the peptide through membranes. M10, when added to cell culture medium, remains in the cytoplasm and nuclei of cells for up to 24 hours.

Esophageal dilatation and interstitial lung disease in systemic sclerosis: a cross-sectional study

Author: C. Richardson, R. Agrawal, J. Lee, O. Almagor, R. Nelson, J. Varga, M. Cuttica, J. D′Amico Dematte, R. Chang, M. Hinchcliff,
Date Published: February-2016
Source: Science Direct

A patulous esophagus on high-resolution computed tomography (HRCT) of the thorax is frequently observed in patients with systemic sclerosis (SSc). Microaspiration has been purported to play a role in the development and progression of SSc interstitial lung disease (ILD), but studies examining the role of microaspiration in SSc-ILD have yielded conflicting results. This study was conducted to determine the association between esophageal diameter and SSc-ILD.

News for Patients

Being Disfigured by Scleroderma Gave Me the Chance to Love Myself

Author: Lisa Goodman-Helfand
Date Published: June-2016
Source: Dr. Oz, The Good Life

Nobody escapes adolescence unscarred by the agony of bullies, peer pressure, acne, and hormones. Along with every survivor of that awkward era, I, too, faced these obstacles. But I had the added bonus of navigating a newly diagnosed autoimmune disease: scleroderma.

I was 10 years old when doctors introduced me to the unknown world of scleroderma. It was 1985, long before Google could tell you every horrifying detail about your illness. I had no idea scleroderma could affect a patient externally, causing the skin to tighten and result in disfigurement and other painful physical abnormalities. Nor did I know that in its worst form, scleroderma attacks one's internal organs and can be fatal. In an effort to shield me from the complexities of scleroderma, my mom told me that my skin was tighter than normal, but that I was perfectly fine otherwise.

Scleroderma Patients and Lung Transplantation

Author: John Hansen-Flaschen, MD
Date Published: June-2016
Source: ATS News

Two studies published in the June issue of Annals of the American Thoracic Society look at scleroderma and lung transplantation. Patients with advanced lung disease due to systemic sclerosis (SSC) have long been considered poor candidates for lung transplantation. However, in a retrospective study of lung transplant outcomes over an eight-year period at the University of Pittsburgh, Maria M. Crespo. MD, and colleagues found that one- and five-year survival in patients with scleroderma are similar to pulmonary fibrosis. The results, they wrote, “indicate that lung transplant is a reasonable treatment option in selected patients with scleroderma.”

Phase 3 Trial to Begin for Terguride in Diffuse Cutaneous Scleroderma

Author: Magdalena Kegel
Date Published: June-2016
Source: Scleroderma News

The German pharmaceutical company Medac, in August, will begin Phase 3 of a clinical trial to access the therapeutic potential of terguride, a disease-modifying drug for the treatment of diffuse cutaneous systemic sclerosis.

Terguride is a serotonin receptor blocker, acting at two particular serotonin receptors called 5-HT2A and 5-HT2B. Medac is convinced that stopping the nerve signaling in serotonin neurons will block the progression of fibrotic tissue development and blood vessel remodeling in organs affected by diffuse cutaneous systemic sclerosis.

Pfizer, Novartis, BMS join $45M round for early fibrotic disease startup

Author: Stacy Lawrence
Date Published: June-2016
Source: Fierce Biotech

A trio of pharmas have bought into the early vision of startup Blade Therapeutics. Pfizer Venture Investments, Novartis Institutes for Biomedical Research and Bristol-Myers Squibb ($BMY) all came in to the $45 million Series B round for the startup, which aims to address novel targets in fibrotic disease. It expects to get into the clinic with this financing.

Founded in the fall of 2015, Blade is based upon technology in-licensed from Johns Hopkins University, in particular, on work from the lab of Dr. Harry Dietz--a professor of genetics and medicine at the university and the company’s founder. His work focuses on the cause of a pair of fibrotic diseases: Marfan Syndrome and Stiff Skin Syndrome, which forms the basis of Blade’s investigation into new biological pathways involved in tissue fibrosis and dysfunction.

Progression of Lung Fibrosis in Scleroderma May Be Predicted by Antibody-Specific T-cells

Author: Magdalena Kegel
Date Published: May-2016
Source: Scleroderma News

Immune T-cells induced by the presence of autoantibodies against topoisomerase-I were linked to lung fibrosis and found to predict disease progression in scleroderma patients. The finding may open new avenues of research into treatments that selectively target the various tissue-specific disease manifestations of scleroderma — a substantial improvement to the nonselective immunosuppression used today.

In scleroderma, autoantibodies targeting specific structures are linked to various clinical representations of the disease. One such antibody against the enzyme topoisomerase-I, crucial for the winding and unwinding of DNA molecules during gene expression and cell divisions, is present in 20 percent to 45 percent of scleroderma patients and linked to diffuse skin disease and lung fibrosis. Patients with anti-topoisomerase-I antibodies also have more severe disease.

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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