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

An Immunochip based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3

Author: Jane Zochling, Felicity Newell, Jac C Charlesworth, et al
Date Published: October-2014
Source: Arthritis Research & Therapy

Introduction: The aim of the study was to interrogate the genetic architecture and autoimmune pleiotropy of scleroderma susceptibility in the Australian population. Methods: We genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a custom array enriched for single nucleotide polymorphisms (SNPs) at immune loci. Controls were taken from the 1958 British Birth Cohort.

The Tsk2/+ Mouse Fibrotic Phenotype is Due to a Gain-of-Function Mutation in the PIIINP Segment of the Col3a1 Gene

Author: Kristen B Long, Zhenghui Li, Chelsea M Burgwin, et al
Date Published: October-2014
Source: Journal of Investigative Dermatology

Systemic sclerosis (SSc) is a polygenic, autoimmune disorder of unknown etiology, characterized by the excessive accumulation of extracellular matrix (ECM) proteins, vascular alterations, and autoantibodies. The tight skin (Tsk)2/+ mouse model of SSc demonstrates signs similar to SSc including tight skin and excessive deposition of dermal ECM proteins. By linkage analysis, we mapped the Tsk2 gene mutation to less than 3 megabases on chromosome 1.

Scleroderma: the role of serum autoantibodies in defining specific clinical phenotypes and organ system involvement.

Author: Robyn Domsic
Date Published: September-2014
Source: Current Opinion in Rheumatology

Purpose of review: To discuss recent advances in serologic testing for systemic sclerosis (SSc)-associated antibodies with respect to the diagnosis and prognosis of the disease. Recent findings: The importance of SSc antibodies for diagnosis has become increasingly recognized, as evidenced by incorporation into the 2013 American College of Rheumatology/the European League Against Rheumatism clinical classification criteria for SSc.

Emerging cellular and molecular targets in fibrosis: implications for scleroderma pathogenesis and targeted therapy.

Author: Castelino FV, Varga J.
Date Published: September-2014
Source: Current Opinion in Rheumatology

PURPOSE OF REVIEW: To summarize the recent advances in understanding the novel cytokine pathways, intracellular signaling molecules, cell-fate decisions, cellular aging and senescence, and the cross-talk of effector cells and the extracellular matrix (ECM) in the pathogenesis of systemic sclerosis (SSc) fibrosis. RECENT FINDINGS: Studies from the animal models and human beings implicate novel molecular pathways such as Wnts, the chemokines, chemokine (C-X-C motif) ligand 4 and chemokine (C-C motif) ligand 2, and the lipid mediators lysophosphatidic acid and sphingosine-1-phosphate in the pathogenesis of SSc. These signals, coupled with the mesenchymal cell-fate decisions, contribute to aberrant fibroblast activation and myofibroblast accumulation.

Update on scleroderma-associated interstitial lung disease.

Author: Fan MH, Feghali-Bostwick CA, Silver RM.
Date Published: September-2014
Source: Current Opinion in Rheumatology

PURPOSE OF REVIEW: Systemic sclerosis (SSc), or scleroderma, is a heterogeneous and complex autoimmune disease characterized by varying degrees of skin and organ fibrosis and obliterative vasculopathy. The disease results in significant morbidity and mortality, and to date, available treatments are limited. Lung involvement is the leading cause of death of patients with SSc. Over the past year, significant advances have been made in our understanding of SSc-associated lung disease, and this review attempts to encapsulate these most recent findings and place them in context.

News for Patients

Interstitial Pneumonia? Rheumatic Disease Has Better Odds Than Idiopathic

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

Patients who have connective tissue disease (CTD) survive longer with interstitial pneumonia than those with idiopathic pulmonary fibrosis (IPF), according to new research, although declines in pulmonary function over time appear similar in both groups. Researchers from the National Jewish Health center in Denver speculate that the worse outcome in IPF patients is due to a higher rate of fatal acute exacerbations of pulmonary fibrosis than among CTD patients with “usual” interstitial pneumonia.

Extra Help With Medicare Prescription Drug Plan Costs

Author: Social Security Administration
Date Published: October-2014
Source: Social Security Administration

Welcome! The Medicare Prescription Drug program gives you a choice of prescription plans that offer various types of coverage. You may be able to get extra help to pay for the monthly premiums, annual deductibles, and co-payments related to the Medicare Prescription Drug program. However, you must be enrolled in a Medicare Prescription Drug plan to get this extra help.

Scientists make important breakthrough in fight against debilitating autoimmune diseases

Author: University of Bristol
Date Published: September-2014
Source: News Medical

cientists have made an important breakthrough in the fight against debilitating autoimmune diseases such as multiple sclerosis by revealing how to stop cells attacking healthy body tissue. Rather than the body's immune system destroying its own tissue by mistake, researchers at the University of Bristol have discovered how cells convert from being aggressive to actually protecting against disease.

Boehringer Ingelheim’s OFEV™ (nintedanib*) approved by the FDA for the treatment of idiopathic pulmonary fibrosis

Author: Dr. Kristin Jakobs
Date Published: October-2014
Source: BusinessWire

Boehringer Ingelheim announced that the US Food and Drug Administration (FDA) has approved OFEV™ (nintedanib*) for the treatment of idiopathic pulmonary fibrosis (IPF), a debilitating and fatal lung disease, which has a median survival of 2-3 years after diagnosis. Until today there were no FDA-approved treatments for IPF. Granted Breakthrough Therapy designation during its review by the FDA, nintedanib* is the first and only tyrosine kinase inhibitor (TKI) approved to treat IPF. Nintedanib* is taken as one capsule twice daily and will be available to patients within 10 days.

FDA Approves Esbriet® (pirfenidone) for the Treatment of Idiopathic Pulmonary Fibrosis (IPF) in the United States

Author: InterMune
Date Published: October-2014
Source: InterMune Press Release

Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), announced that the U.S. Food and Drug Administration (FDA) has approved Esbriet® (pirfenidone) as a treatment for idiopathic pulmonary fibrosis (IPF) in the United States. IPF is a fatal disease caused by progressive scarring (fibrosis) of the lungs, which makes breathing difficult and prevents the heart, muscles and vital organs from receiving enough oxygen to work properly. The disease can advance quickly or slowly, but eventually the lungs will harden and stop working altogether.

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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