News for Patients

Hard Choices in Pursuit of Rare-Disease Cures

Author: Amy Dockser Marcus
Date Published: March-2014
Source: Wall Street Journal

Patients Urge More Data Gathering as Tighter Federal Budget Crimps ResearchBETHESDA, Md.—Last month, at the National Institutes of Health clinical center here, Sarah Kucharski and Fran Saplis set up a table at a Rare Disease Day event. The plan was to hand out pens and brochures about fibromuscular dysplasia, which affects the arteries and can cause complications such as high blood pressure and aneurysms. But first, they wanted to deliver a petition, and a message, to Francis Collins, the NIH's director.


OSU Finds New Compound That Could Treat Autoimmune Diseases

Author: Staff Editor
Date Published: March-2014

CORVALLIS, Ore. - Scientists at Oregon State University have discovered a chemical compound that could be a safer alternative for treating autoimmune diseases. Although studies in humans are still needed, the finding could bring hope to people suffering from conditions caused by their immune system attacking their bodies. Autoimmune diseases can affect almost any part of the body resulting in diseases such as colitis, multiple sclerosis and psoriasis. "We mostly treat autoimmune diseases with high-dose corticosteroids or cytotoxic drugs to suppress the immune response, and the side effects can be very difficult to deal with," said lead researcher Nancy Kerkvliet. "But if this chemical works in clinical studies, it could result in a safer alternative to conventional drugs."


Upfront triple combination therapy in pulmonary arterial hypertension: a pilot study.

Author: Sitbon O, Jays X, Savale L, Cottin V, et al
Date Published: March-2014
Source: The European Respiratory Journal

Abstract - Patients with severe pulmonary arterial hypertension (PAH) in New York Heart Association (NYHA) functional class (FC) III/IV have a poor prognosis, despite survival benefits being demonstrated with intravenous epoprostenol. In this pilot study, the efficacy and safety of a triple combination therapy regimen in patients with severe PAH was investigated.Data from newly diagnosed NYHA FC III/IV PAH patients (n = 19) initiated on upfront triple combination therapy (intravenous epoprostenol, bosentan and sildenafil) were collected retrospectively from a prospective registry.


Big pharma plus big data could equal big savings

Author: Shu Zhang
Date Published: March-2014
Source: MedILL Reports Chicago

Fifteen percent of Netflix Inc.’s 44.4 million global subscribers watched the second season of “House of Cards” the day it went live. But Netflix wasn’t surprised. Before it invested in the series, a Venn diagram of viewers’ watching preferences had already predicted a series directed by David Fincher, starring Kevin Spacey and based on a British TV series would hit the sweet spot. The data mining technique Netflix used relies on “big data,” a fairly recent buzzword. Predictions based on big data analysis are being made in the stock market, the auto market, at the box office and in political elections.


New Antibody Shows Promise in Lupus

Author: Nancy Walsh
Date Published: March-2014
Source: MedPage Today

Initial clinical studies of epratuzumab in patients with active, moderate-to-severe systemic lupus erythematosus (SLE) are suggesting promise for this monoclonal antibody. In an exploratory analysis of a 12-week phase IIb study, patients who received four weekly 600 mg doses of epratuzumab were three times more likely to show a response than those given placebo (OR 3.2, 95% CI 1.1-8.8, P=0.03), according to Daniel J. Wallace, MD, of the University of California Los Angeles, and colleagues.


Asking the Right Questions about your Diagnosis

Author: B. Senkbeil
Date Published: March-2014
Source: ACR Simple Tasks Blog

If you are living with a rheumatic disease, you likely remember days of unexplained joint pain and swelling. The symptoms of a rheumatic disease can be confusing, misleading and make the disease hard to diagnose. You may also remember receiving a diagnosis you had never heard of and not knowing what it meant for your health. This can make the diagnosis of a rheumatic disease frightening for patients. It is always important to have open, honest communication with your physicians, especially when the symptoms point to a rheumatic disease. But sometimes, especially when a diagnosis is newly received, it can be hard to know what questions to ask and how to ensure you receive the best treatment.


How Age Alters the Appearance of Scleroderma

Author: Norman Bauman
Date Published: March-2014
Source: Rheumatology Network

In systemic sclerosis, age at disease onset is associated with differences in clinical presentation and outcome. The Spanish Scleroderma Study Group followed 1,037 patients for a mean followup of five years. The investigators compared the initial and cumulative manifestations, immunologic features, and death rates for three age groups at onset: early standard, and late. Standardized mortality was higher in younger patients. The article contains far more detail about symptoms and outcomes than those included in the chart below.


FDA Initiatives Incorporate Patient Input and Benefit-Risk Framework into Real-Life Review Process

Author: Cecilia Arradaza
Date Published: February-2014
Source: FasterCures

Evaluating the balance between the benefits and risks of new products under review is among the most important elements regulators juggle across the lifecycle of a product. And the question of how to bring more structure, rigor, consistency, and predictability to benefit-risk evaluation is receiving intense focus at the moment. In a FasterCures Webinar on the subject, moderator Cecilia Arradaza, FasterCures’ managing director of communications and policy, noted that there have been several meetings hosted by organizations such as the Institute of Medicine and the Drug Information Association on the topic just within the last month. “We’re moving toward a new paradigm here,” commented Kim McCleary, FasterCures’ director of strategic initiatives. “Everybody’s figuring out this landscape fresh.” See the link below for information on the FDA public meeting focused on PAH to be held in May.

Public Meeting on Pulmonary Arterial Hypertension Patient-Focused Drug Development


A Targeted Treatment for Scleroderma?

Author: N. Walsh
Date Published: February-2014
Source: MedPage Today

A monoclonal antibody that binds to the type 1 interferon-alpha receptor showed an acceptable safety profile in a phase I trial for systemic sclerosis, but efficacy was less clear. "This was a phase I trial without a placebo arm and was not powered for efficacy," observed lead investigator Avram Goldberg, MD, who directs the Scleroderma and Raynaud's Treatment Center at Hofstra North Shore LIJ School of Medicine in Hempstead, N.Y. "Unfortunately, there were no obvious clinical efficacy trends that were apparent in this study. Some individual patients did have improvements in various disease manifestations, but a particular trend was not observed," Goldberg explained to MedPage Today.


Rare Disease Day: We’re Joined Together by This Common Thread

Author: F. Collins
Date Published: February-2014
Source: NIH

Tomorrow, the National Institutes of Health (NIH) will mark the seventh annual Rare Disease Day. As part of that gathering, I’d like to share this amateur video. What you’ll hear is an adaptation of a song I once heard sung at a folk festival, but I’ve changed the words. I’m now dedicating this to all of the good people whose lives have been touched by rare diseases. While the spur-of-the-moment camerawork leaves something to be desired, I love the spirit of this video. It was shot at a gathering of the Moebius Syndrome Foundation in Philadelphia in July 2012. Moebius syndrome is a rare neurological condition, present from birth, that primarily affects the muscles controlling facial expression and eye movement. However, if you watch the video all the way to the end, or read the lyrics at the bottom of this post, I think you’ll find that this song strikes a chord for all such rare conditions.


Handy tips for not-so-handy greetings

Author: Editorial Team
Date Published: February-2014
Source: RheumatoidArthritis.Net

We’re all familiar with the role of a handshake in modern culture. Most historians believe that the gesture originated in medieval times as a way for individuals to show they were unarmed upon meeting.1 Some evidence suggests that people may have been shaking hands as far back as the 5th century BC!2 Unfortunately, when you have Rheumatoid Arthritis, handshakes can become a dreaded experience. For many, even a simple handshake can be extremely painful…made worse by the uncomfortable (and potentially awkward) situation. A few of our community members even mentioned skipping church services and social events that would require multiple greetings.


Autoimmune Conditions and Depression

Author: Danielle Barron
Date Published: February-2014
Source: Irish Medical News

Depression may be higher than previously reported in people with severe rheumatoid arthritis, according to a new study. The new findings are published in the journal Arthritis Care and Research and suggest the impact on mental health, as well as the chronic pain and fatigue associated with the condition, could be much larger than previously estimated. As a result of these findings, the researchers at the Arthritis Research UK Centre for Genetics and Genomics at the University of Manchester, say that patients with severe active disease, who are waiting to go onto a biological therapy, should be routinely screened for depression.


Systemic sclerosis patients 'at higher risk of osteoporosis'

Date Published: February-2014
Source: Arthritis Research UK

People suffering from systemic sclerosis are at a higher risk of sustaining fractures due to osteoporosis, according to a new study from Taiwan. The Taipei Medical University study assessed data from 1,712 systemic sclerosis patients in the Taiwan National Health Insurance database to identify the incidence rate and risk factors of osteoporotic fractures among sufferers of this disease. - See more at:


InterMune Lung Drug Passes Trial

Date Published: February-2014
Source: Reuters

InterMune Inc's lead drug reduced the progression of a fatal lung disease in a late stage trial, inching closer to U.S. approval and almost tripling the company's shares. The latest trial data brings the world's biggest drugs market closer for InterMune's pirfenidone, a medicine already in use in Europe, Canada and Asia. Pirfenidone was rejected by the U.S. Food and Drug Administration in May 2010, citing lack of data to prove its effectiveness in treating idiopathic pulmonary fibrosis (IPF), a potentially fatal lung disease.


Love in the Time of Chronic Illness

Author: J. Fortenbury
Date Published: February-2014
Source: The Atlantic

“Don’t even tempt me.” That was Ashley Pierce’s response when her friend Tammi tried to set her up with Walter. Having spent a good portion of the last 10 years in a Las Vegas hospital bed, Pierce didn’t even want to entertain the thought of dating. Besides, if he was anything like other guys she had pursued, she didn’t think he’d be able to handle it. He’d back out. Four years later, they are engaged. He never backed out. “I never thought someone would marry me with my conditions,” 26-year-old Pierce recently wrote in a Facebook status. Her conditions? Crohn’s Disease and ulcerative colitis—chronic inflammatory conditions that affect the gastrointestinal and digestive tracts and include complications ranging from abdominal cramps to malnutrition.


Step Forward in Treating Pulmonary Arterial Hypertension

Author: Lungs, Breathing & Allergy Group
Date Published: January-2014
Source: Cleveland Clinic

A new drug for treating Group 1 pulmonary hypertension (also called pulmonary arterial hypertension) is being hailed as an improvement over earlier medications because it has been found to cause side effects in fewer patients, and it only needs to be taken once a day. Swiss pharmaceutical company Actelion recently received FDA approval for the drug, macitentan (Opsumit®). The drug was approved at a 10-mg dose, which was tested in a multi-center clinical study over a 36-month period, which is published in the New England Journal of Medicine. A step forward “Macitentan is a notable improvement on old solutions, says Raed Dweik, MD, Director of the Pulmonary Vascular Program at Cleveland Clinic.


How the Internet Helped Me Cope With My Rare Disease

Author: S. Supekar
Date Published: January-2014
Source: The Atlantic

I've never been one to crave optimism. I didn't immerse myself in the triumph-over-adversity messaging of the Chicken Soup for the Soul series as an adolescent, nor do I typically share affirmations or cat video pick-me-ups on social media. I'm more inclined to the analytic wisdom of bell hooks, George Orwell, or James Baldwin than to the spiritual aphorisms of the Dalai Lama or Deepak Chopra. Whether I saw the glass as half empty or half full never much mattered to me: the glass has what it has.


6 Things about Chronic Pain You Didn’t Know You Knew

Author: Leitis
Date Published: February-2014
Source: Invisible Illness Battle

Chronic pain isn’t just constant pain, though that would be more than enough for anyone to handle, the truth is chronic pain always brings friends. These added challenges are obvious, but rarely taken into consideration by “healthy” people. Remembering that like all bullies chronic pain travels with a gang can help to better understand the life of someone in chronic pain. Pain is exhausting. We have all had a bad headache, a twisted knee, or a pulled muscle, and by the end of the day it is a monumental effort just to read the mail. You may not have consciously realized it, but the pain that has relentlessly nagged you through out the day has drained you as bad as any flu. Even when you try to ignore pain it will stay in the back of your mind, screaming for attention, draining away all of your energy. With chronic pain this is amplified because it isn’t just one day, it is months or even years of struggling to live with this very demanding monkey on your back. I’m tired just thinking about it.


FDA Asks Docs to Limit Acetaminophen in Prescription Meds

Author: M. Brooks
Date Published: January-2014
Source: Medscape

The US Food and Drug Administration (FDA) is asking healthcare professionals to stop prescribing combination prescription pain relievers that contain more than 325 mg of acetaminophen per tablet, capsule, or other dosage unit, citing the risk for liver damage. The action targets prescription analgesics that contain both acetaminophen and another ingredient, typically opioids such as codeine, oxycodone, and hydrocodone. Some of these combination products now have as much as 750 mg of acetaminophen per dose.


Association of the Autoimmune Disease Scleroderma with an Immunologic Response to Cancer

Author: C. Joseph1,E. Darrah, A. Shah, A. Skora, L. Casciola-Rosen, F. Wigley, F. Boin, A. Fava, C. Thoburn, I. Kinde, Y. Jiao, N. Papadopoulos, K. Kinzler, B. Vogelstein, A. Rosen
Date Published: January-2014
Source: Science

Autoimmune diseases are thought to be initiated by exposures to foreign antigens that cross-react with endogenous molecules. Scleroderma is an autoimmune connective tissue disease in which patients make antibodies to a limited group of autoantigens, including RPC1, encoded by the POLR3A gene. As patients with scleroderma and antibodies against RPC1 are at increased risk for cancer, we hypothesized that the “foreign” antigens in this autoimmune disease are encoded by somatically mutated genes in the patients’ incipient cancers. Studying cancers from scleroderma patients, we found genetic alterations of the POLR3A locus in six of eight patients with antibodies to RPC1 but not in eight patients without antibodies to RPC1. Analyses of peripheral blood lymphocytes and serum suggested that POLR3A mutations triggered cellular immunity and cross-reactive humoral immune responses. These results offer insight into the pathogenesis of scleroderma and provide support for the idea that acquired immunity helps to control naturally occurring cancers.