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 $1,000,000 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

Endocan, Novel Potential Biomarker for Systemic Sclerosis: Results of a Pilot Study

Author: Paul Bălănescu, Anca Lădaru, Eugenia Bălănescu, Theodor Voiosu, Cristian Băicuş and Gheorghe Andrei Dan
Date Published: September-2015
Source: Journal of Clinical Laboratory Analysis

Systemic sclerosis (Ssc) is an autoimmune disease characterized by vascular alterations of small arteries and microvessels with subsequent tissue fibrosis. Endocan is expressed by endothelial cells and associated with endothelial dysfunction; therefore it could be a potential biomarker for Ssc patients.

Associations between circulating endostatin levels and vascular organ damage in systemic sclerosis and mixed connective tissue disease: an observational study

Author: Silje Reiseter,corresponding author Øyvind Molberg, Ragnar Gunnarsson, et al
Date Published: August-2015
Source: Arthritis Research & Therapy

Systemic sclerosis (SSc) and mixed connective tissue disease (MCTD) are chronic immune-mediated disorders complicated by vascular organ damage. The aim of this study was to examine the serum levels of the markers of neoangiogenesis: endostatin and vascular endothelial growth factor (VEGF), in our unselected cohorts of SSc and MCTD.

Type 2 innate lymphoid cell counts are increased in patients with systemic sclerosis and correlate with the extent of fibrosis

Author: Thomas Wohlfahrt, Svetlana Usherenko, Matthias Englbrecht, et al
Date Published: September-2015
Source: Annals of the Rheumatic Diseases

Type 2 innate lymphoid cells (ILC2s), a recently identified population of lymphoid cells lacking lineage-specific receptors, promote type 2 immunity and tissue remodelling. However, the contributive role of ILC2s in the pathogenesis of systemic sclerosis (SSc) is unknown. We aimed to evaluate the levels and correlations with fibrotic manifestations in SSc.

Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway

Author: Elena López-Isac, Diana Campillo-Davo, Lara Bossini-Castillo, et al
Date Published: September-2015
Source: Annals of the Rheumatic Diseases

TYK2 is a common genetic risk factor for several autoimmune diseases. This gene encodes a protein kinase involved in interleukin 12 (IL-12) pathway, which is a well-known player in the pathogenesis of systemic sclerosis (SSc). Therefore, we aimed to assess the possible role of this locus in SSc.

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.

News for Patients

The Annual Review: Systemic Sclerosis Research

Author: Norman Bauman
Date Published: September-2015
Source: The Rheumatology Network

There have been many developments in the treatment of systemic sclerosis throughout the last year. Researchers continue to explore the possibility of genetic influences in disease progression and the role of SSc antibodies for diagnosis. New criteria has been proposed for Very Early Disease Onset Systemic Sclerosis. These and other developments have led to improvements in disease control and a better quality of life for patients who live with systemic sclerosis, also known as systemic scleroderma.

Relationship between Body Mass Composition, Bone Mineral Density, Skin Fibrosis and 25(OH) Vitamin D Serum Levels in Systemic Sclerosis

Author: A. Corrado, R. Colia, A. Mele, V. Di Bello, A. Trotta, A. Neve, F. Paolo Cantatore
Date Published: September-2015
Source: PLOS One

Systemic sclerosis (SSc) is a rare chronic autoimmune disease characterised by an increased synthesis and deposition of extra-cellular matrix in skin and internal organs and widespread macro and micro- vascular damage. Depending on the extent of skin fibrosis, SSc can be classified in two main subtypes, the limited cutaneous form (lcSSc) and the diffuse cutaneous form (dcSSc) [1].

RayVa Topical Treatment Safe and Effective in Phase 2a SCL-Related Raynaud’s Phenomenon Trial from Apricus

Author: Maureen Newman
Date Published: September-2015
Source: Scleroderma News

Top-line results from the Apricus Biosciences, Inc. Phase 2a clinical trial for RayVa™ topical treatment in patients with scleroderma-related Raynaud’s phenomenon indicate the treatment is safe and effective. Patients tolerated treatment and reported a noticeable change in the way their skin temperature responded to a cold challenge. There are now plans to advance to a later stage Phase 2 clinical trial in 2016.

PAH Clinical Trial Designs Are Evolving, Paving the Way Toward Improved Therapies

Author: Maureen Newman
Date Published: September-2015
Source: Pulmonary Hypertension News

The recent announcement of positive results for the AMBITION trial testing combinatorial ambrisentan and tadalafil in patients with pulmonary arterial hypertension (PAH) is bringing more attention to the need to actively recruit participants for clinical trials. Without patients and clinicians interested in trying new treatments for a currently incurable condition, promising new therapies cannot be brought to market for the general PAH population.

PFTs Often Miss Lung Disease in Scleroderma

Author: Wayne Kuznar
Date Published: September-2015
Source: MedPage Today

Pulmonary function tests (PFTs) are not reliable for the detection of scleroderma interstitial lung disease (SSc-ILD), results of a prospective cohort study suggested. An international team of researchers found that only one-fourth of patients with scleroderma had a forced vital capacity (FVC) <80% and only about half had an abnormally low value in at least one PFT. Further, almost two-thirds of patients with significant ILD on high-resolution computed tomography (CT) had a normal FVC.

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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