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

Joint and tendon involvement predict disease progression in systemic sclerosis: a EUSTAR prospective study

Author: J. Avouac, U. Walker, E. Hachulla, G. Riemekasten, G. Cuomo, et al
Date Published: August-2014
Source: Annals of the Rheumatic Diseases

Objective To determine whether joint synovitis and tendon friction rubs (TFRs) can predict the progression of systemic sclerosis (SSc) over time. Patients and methods We performed a prospective cohort study that included 1301 patients with SSc from the EUSTAR database with disease duration ≤3 years at inclusion and with a follow-up of at least 2 years. Presence or absence at clinical examination of synovitis and TFRs was extracted at baseline. Outcomes were skin, cardiovascular, renal and lung progression. Overall disease progression was defined according to the occurrence of at least one organ progression.

Fat Cell Transplants Boost Hand Function in SSc

Author: Rita Baron-Faust
Date Published: August-2014
Source: Rheumatology Network

Transplanted into their fingers, their own fat cells produce improvements in hand disability, pain, swelling and Raynaud’s phenomenon in as little as two months among patients with scleroderma, according to preliminary results from a small clinical trial in France. In the open-label, single-arm trial, autologous adipose-derived stromal/stem cells (ADSC) were aspirated from the abdomen, purified, and injected into the fingers of 12 women with systemic sclerosis (SSc), with no serious adverse consequences.

Transforming growth factor β—at the centre of systemic sclerosis

Author: Robert Lafyatis
Date Published: August-2014
Source: Nature Reviews Rheumatology

Transforming growth factor β (TGF-β) has long been implicated in fibrotic diseases, including the multisystem fibrotic disease systemic sclerosis (SSc). Expression of TGF-β-regulated genes in fibrotic skin and lungs of patients with SSc correlates with disease activity, which points to this cytokine as the central mediator of pathogenesis. Patients with SSc often develop pulmonary arterial hypertension (PAH), a particularly lethal complication caused by vascular dysfunction.

The role of genetics and epigenetics in the pathogenesis of systemic sclerosis

Author: Jasper C. A. Broen, Timothy R. D. J. Radstake & Marzia Rossato
Date Published: August-2014
Source: Nature Reviews Rheumatology

Systemic sclerosis (SSc) is a complex autoimmune disease of unclear aetiology. A multitude of genetic studies, ranging from candidate-gene studies to genome-wide association studies, have identified a large number of genetic susceptibility factors for SSc and its clinical phenotypes, but the contribution of these factors to disease susceptibility is only modest. However, in an endeavour to explore how the environment might affect genetic susceptibility, epigenetic research into SSc is rapidly expanding.

Lipoic acid plays a role in scleroderma: insights obtained from scleroderma dermal fibroblasts

Author: P. Tsou, B. Balogh, A. Pinney, G. Zakhem, et al
Date Published: August-2014
Source: Arthritis Research & Therapy

Systemic sclerosis (SSc) is a connective tissue disease characterized by fibrosis of the skin and organs. Increase in oxidative stress and platelet-derived growth factor receptor (PDGFR) activation promote collagen I (Col I) production, leading to fibrosis in SSc. Lipoic acid (LA) and its active metabolite dihydrolipoic acid (DHLA) are naturally occurring thiols that act as cofactors and antioxidants, and are produced by lipoic acid synthetase (LIAS). The goal of this study was to examine whether LA and LIAS was deficient in SSc patients and determine the effect of DHLA on the phenotype of SSc dermal fibroblasts.

News for Patients

Joint and tendon involvement predict disease progression in systemic sclerosis: a EUSTAR prospective study

Author: J. Avouac, U. Walker, E. Hachulla, G. Riemekasten, G. Cuomo, et al
Date Published: August-2014
Source: Annals of the Rheumatic Diseases

Objective To determine whether joint synovitis and tendon friction rubs (TFRs) can predict the progression of systemic sclerosis (SSc) over time. Patients and methods We performed a prospective cohort study that included 1301 patients with SSc from the EUSTAR database with disease duration ≤3 years at inclusion and with a follow-up of at least 2 years. Presence or absence at clinical examination of synovitis and TFRs was extracted at baseline. Outcomes were skin, cardiovascular, renal and lung progression. Overall disease progression was defined according to the occurrence of at least one organ progression.

Fat Cell Transplants Boost Hand Function in SSc

Author: Rita Baron-Faust
Date Published: August-2014
Source: Rheumatology Network

Transplanted into their fingers, their own fat cells produce improvements in hand disability, pain, swelling and Raynaud’s phenomenon in as little as two months among patients with scleroderma, according to preliminary results from a small clinical trial in France. In the open-label, single-arm trial, autologous adipose-derived stromal/stem cells (ADSC) were aspirated from the abdomen, purified, and injected into the fingers of 12 women with systemic sclerosis (SSc), with no serious adverse consequences.

4 keys to appealing a rejected insurance claim

Author: Tom Murhpy
Date Published: August-2014
Source: Associated Press

Keep calm and take notes. Stay true to this principle and you can improve your odds of successfully fighting a health insurer's claim rejection. Experts who help with the appeals process say patients have a 50 percent chance or better of prevailing. They say a winning argument may require heavy doses of research and persistence, but the end result is a decision that can stave off thousands of dollars in medical bills.

Sclerosis: Autologous Cell Transfers May Help Patients

Author: Jennifer Garcia
Date Published: August-2014
Source: Medscape Medical News

Injections of autologous stromal vascular fraction (SVF) may improve hand function and decrease pain among patients with systemic sclerosis (SSc), according to a new study published online August 11 in the Annals of the Rheumatic Diseases. The phase 1, open-label study enrolled 12 female patients with SSc and a Cochin Hand Function Scale score higher than 20/90. Patients receiving vasodilator or immunosuppressive therapy in the 3 months before or 6 months after enrollment were excluded from the study. Patients were administered subcutaneous injections of autologous SVF into each finger of both hands and were evaluated over the course of a 6-month period.

Pulmonary Arterial Hypertension Treatment Guidelines: New Answers and Even More Questions

Author: Anna R. Hemnes, MD
Date Published: August-2014
Source: Chest

I vividly remember my first patient with pulmonary arterial hypertension (PAH) during my internship in 1999. We admitted a young woman with pulmonary hypertension, clearly miserable from right-sided heart failure. Although she had been followed in our pulmonary hypertension clinic, there was little to offer her until she clearly required the only medication that was known to be efficacious in patients with PAH at that time: IV epoprostenol.1 Within a few days of starting therapy, she was a new person: walking through the hall, heart failure resolved, and ready to go home to her family.

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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