Research Program

The best way to help people living with scleroderma is to fund the most promising research aimed at improved therapies and a cure.

Research is the cornerstone of the Scleroderma Research Foundation’s existence. Only from continued investment in top quality medical research will discoveries be made to help people living with scleroderma and improve their quality of life. To that end, we press forward with finding, funding and facilitating the most promising research projects at institutions around the world.

The Scleroderma Research Foundation (SRF) funds research aimed at understanding scleroderma pathogenesis (disease development), identifying markers for disease progression, developing new and more relevant animal models for scleroderma and developing new therapies. Through generous donations, the SRF awards research grants totaling more than $1,500,000 annually and is the largest nonprofit source of funds for scleroderma research.

Our core projects are aimed at understanding how the immune system and vasculature malfunction, how fibrosis begins and progresses as well as the interrelationships among these facets of the disease. Research relating to disease mechanisms provides a basis for identifying new therapeutic targets and the SRF actively promotes the exploration of new therapies.

The Foundation continues to focus significant energy on developing animal models that mimic aspects of scleroderma. These models will allow researchers to ask questions that cannot be asked in human studies and will complement experiments done with human tissue. Additionally, the SRF funds research aimed at identifying scleroderma biomarkers. Effective biomarkers could be used for early diagnosis, predicting and monitoring disease progression and assessing response to therapies.

The Scleroderma Research Foundation is dedicated to fostering the creation and continued success of Scleroderma Clinical Centers of Excellence. At these Centers, physicians representing many different specialties, such as rheumatology, pulmonology, cardiology, gastroenterology and dermatology are dedicated to clinical research and the care of scleroderma patients. Patients receive integrated care at the Centers and because all of the specialists are present and work closely together, standards of scleroderma care can be advanced. The Centers are also critical for training the next generation of scleroderma physicians and clinical investigators. Physicians and clinical investigators at the Centers play an integral role in other research projects funded by the SRF by providing vital clinical expertise.

With the expert guidance of our esteemed Scientific Advisory Board, our research projects are evaluated annually at the SRF Scientific Workshop, where intensive review and discussion of the next critical steps take place. The workshop is a forum for leading scientists from inside and outside the SRF program to provide new perspectives on the search for a cure, while promoting synergy among investigators and advancing the growing understanding of scleroderma.

Understanding of scleroderma at the cellular and molecular level is increasing thanks in part to partnerships the SRF has facilitated. Increasingly, SRF-funded scientists are exploring new opportunities that will translate laboratory advances into effective therapies to help patients live longer, fuller lives.

The Scleroderma Research Foundation is leading the scleroderma research effort by:

  • Promoting collaboration and cross-institutional cooperation among scientists in a variety of disciplines, through a strategic, integrated program.
  • Attracting promising new scientists to scleroderma research, through its Postdoctoral Fellowship Program.
  • Promoting and maintaining Scleroderma Centers of Excellence, such as the Scleroderma Center at Johns Hopkins University.
  • Bringing new experts, technology and forward thinking to the field of scleroderma research.
 
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Research News

Systematic Autoantigen Analysis Identifies a Distinct Subtype of Scleroderma with Coincident Cancer

Author: George J. Xu, Ami A. Shahf, Mamie Z. Li, Qikai Xu, Antony Rosen, Livia Casciola-Rosen, and Stephen J. Elledge
Date Published: November-2016
Source: PNAS

In this study, we created a barcoded whole-genome ORF mRNA display library and combined it with phage-immunoprecipitation sequencing to look for autoantibodies in sera from patients with scleroderma who also had coincident cancer without a known autoantibody biomarker. Using these two technologies, we found that 25% of these patients had autoantibodies to RNA Binding Region Containing 3 (RNPC3) and multiple other components of the minor spliceosome. There was evidence of intra- and intermolecular epitope spreading within RNPC3 and the complex. These combined technologies are highly effective for rapidly discovering autoantibodies in patient subgroups, which will be useful tools for patient stratification and discovery of pathogenic pathways.

Targeted Therapy for Scleroderma Fibrosis

Author: Sara R. Schoenfeld, MD, & Flavia V. Castelino, MD
Date Published: October-2016
Source: The Rheumatologist

Scleroderma, or systemic sclerosis (SSc), is an autoimmune disease characterized by vasculopathy and fibrosis. Although relatively rare, with a prevalence in North America of approximately 300 per 1 million people, SSc is associated with significant morbidity and high rates of mortality.1 Patients with scleroderma have four times greater mortality than age- and sex-matched controls, with the majority of deaths related to interstitial lung disease (ILD) and pulmonary hypertension (PH).2

PAH Medications, Tracleer and Opsumit, Seen to Block Fibrosis in Systemic Sclerosis in Early Study

Author: Joana Fernandes, PHD
Date Published: October-2016
Source: Scleroderma News

Two approved treatments for pulmonary arterial hypertension — Tracleer (bosentan) and Opsumit (macitentan) — can block a molecular pathway that promotes fibrosis in systemic sclerosis (SSc), and may be a potential therapy for these patients as well, according to an early study. The study, “Bosentan And Macitentan Prevent The Endothelial-To-Mesenchymal Transition (Endomt) In Systemic Sclerosis: In Vitro Study,” was published in the journal Arthritis Research & Therapy.

Many Systemic Sclerosis Patients with Raynaud’s Syndrome Soon Develop Other Conditions

Author: Joana Fernandes, PHD
Date Published: October-2016
Source: Scleroderma News

Patients with systemic sclerosis and Raynaud’s syndrome have a high risk of developing other organ complications within two years after the onset of Raynaud’s, according to a study published in the journal PLoS One. The authors reported that these complications mainly occur in the skin, gastrointestinal tract, lungs, heart, kidneys and prostate. The study, “Incidences and Risk Factors of Organ Manifestations in the Early Course of Systemic Sclerosis: A Longitudinal EUSTAR Study,” was conducted by Veronika Jaeger and her colleagues from the University Hospital Basel in Switzerland.

Platelets induce thymic stromal lymphopoietin production by endothelial cells: Contribution to human systemic sclerosis fibrosis

Author: Marie-Elise Truchetet MD-PhD1, Béatrice Demoures, Jorge E. Guimaraes, Anne Bertrand, Paôline Laurent1, Valérie Jolivel1, et al
Date Published: July-2016
Source: Arthritis & Rheumatology

Objective To investigate the relationship between vascular damage and fibrosis in systemic sclerosis (SSc), we tested the hypothesis that platelets contribute to skin fibrosis via the activation of dermal microvascular endothelial cells and subsequent production of pro-fibrotic mediators.

Methods A total of 203 SSc patients and 30 healthy donors (HDs) were prospectively enrolled between 2012 and 2015 at the University Hospital of Bordeaux. Immunohistochemistry and immunofluorescence analyses were performed on skin biopsies from 18 SSc patients and 5 HDs. Serum TSLP levels were measured (ELISA) in the entire cohort. Human dermal microvascular endothelial cells and fibroblasts were purified from biopsies. Extracellular matrix production by cultured fibroblasts was assessed by RT-qPCR.

News for Patients

Rituximab Effective Long-Term for Systemic Sclerosis

Author: Pauline Anderson
Date Published: November-2016
Source: MedPage Today

New research provides additional evidence that rituximab, a B-cell depletion therapy, improves lung fibrosis and reduces skin thickening in patients with systemic sclerosis (SSc).

Over 7 years, pulmonary function was stabilized or improved in SSc patients with interstitial lung disease receiving rituximab, and the drug also helped resolve skin thickening in these patients. As well, the study showed that cessation of rituximab therapy was associated with a decline in pulmonary function, and that the drug had an acceptable safety profile.

Parenting and Scleroderma: How Does That Work?

Author: Kim Tocker
Date Published: November-2016
Source: Scleroderma News

“If you didn’t have scleroderma then you’d be a normal Mum, aye?”

Our youngest was making a comment about how he loves going for bike rides with his Dad, and wished I could come, too. In the same conversation, he talked about missing me at the latest school sports afternoon, and described how lots of the other kids’ mums had participated in the parents’ running races.

Immediately I had visions of myself in slow motion. His mum crawling over the finish line about half an hour after the race actually finished, with a few of the parents who felt sorry for me obligingly clapping from the sidelines. I also could visualize my prednisone fat quivering in the sun as I lay there gasping for breath. No, it all would be awfully unmanageable, and also extremely traumatic, for those having to witness that sight.

Systematic Autoantigen Analysis Identifies a Distinct Subtype of Scleroderma with Coincident Cancer

Author: George J. Xu, Ami A. Shahf, Mamie Z. Li, Qikai Xu, Antony Rosen, Livia Casciola-Rosen, and Stephen J. Elledge
Date Published: November-2016
Source: PNAS

In this study, we created a barcoded whole-genome ORF mRNA display library and combined it with phage-immunoprecipitation sequencing to look for autoantibodies in sera from patients with scleroderma who also had coincident cancer without a known autoantibody biomarker. Using these two technologies, we found that 25% of these patients had autoantibodies to RNA Binding Region Containing 3 (RNPC3) and multiple other components of the minor spliceosome. There was evidence of intra- and intermolecular epitope spreading within RNPC3 and the complex. These combined technologies are highly effective for rapidly discovering autoantibodies in patient subgroups, which will be useful tools for patient stratification and discovery of pathogenic pathways.

New Study Suggests Way to Slow Skin Fibrosis in Scleroderma

Author: HSS
Date Published: November-2016
Source: Press Release

The prognosis for patients diagnosed with scleroderma - an autoimmune disease characterized by fibrosis of the skin - is not typically a rosy one. With limited treatment options available, those suffering from the disorder can face disabling hardening and tightening of their skin. Scleroderma can also affect the blood vessels, lungs and other internal organs.

Many Systemic Sclerosis Patients with Raynaud’s Syndrome Soon Develop Other Conditions

Author: Joana Fernandes, PHD
Date Published: October-2016
Source: Scleroderma News

Patients with systemic sclerosis and Raynaud’s syndrome have a high risk of developing other organ complications within two years after the onset of Raynaud’s, according to a study published in the journal PLoS One. The authors reported that these complications mainly occur in the skin, gastrointestinal tract, lungs, heart, kidneys and prostate. The study, “Incidences and Risk Factors of Organ Manifestations in the Early Course of Systemic Sclerosis: A Longitudinal EUSTAR Study,” was conducted by Veronika Jaeger and her colleagues from the University Hospital Basel in Switzerland.

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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