Rare Disease Day 2012

It’s official. Tomorrow is Rare Disease Day 2012. Last year, we discussed the origins of this special awareness-raising event, recognizing hundreds of organizations from over 40 countries around the world. Its mission: to unite these groups and the patients and families they support, who are impacted by a wide range of rare diseases, and collectively bring attention to rare diseases and the need for greater education and continued research.

This year, a number of activities will be held across the globe as part of this annual event. We wanted to highlight a few of the events taking place here in the U.S. over the next few days that may be of interest to EB patients and their families.

For a complete list of all international activities, visit the official site for Rare Disease Day 2012. To get more information about any of the specific U.S. activities or learn how you can get involved in your own communities to launch or join grassroots activities, click here to visit the official Rare Disease Day U.S. website.

  • One Longhorn Steakburger employee in Tucson, AZ, has organized Alex’s All-Stars, a dinner special and fundraiser being held at her workplace on February 29 in honor of Rare Disease Day
  • Richard Warren Middle School holds its Leap for Rare Diseases, a jump-rope-a-thon to raise research funds for rare diseases on February 29 in Leavenworth, KS.
  • The Heritage Train Station of Norman Performing Arts Studio serves as the backdrop of a special Rare Disease Day Awareness Rally being held February 29 in Norman, OK. The event will include presentations and speakers about various rare diseases, as well as fun, educational activities for the kids, too.
  • The National Institutes of Health hosts RDD@NIH, an all-day event at its offices in Bethesda, MD, on February 29 with a variety of informative activities being planned. Click here for more registration info.

The next day (March 1), the FDA hosts FDA Rare Disease Patient Advocacy Day for rare disease patient advocates, being held at the FDA’s White Oaks facility in Silver Spring, MD. Click here for more registration info.


The Latest on EB Clinical Research

According to the U.S. National Institutes of Health (NIH), there are currently ten active EB research studies in the U.S. and abroad still in the recruiting stage. Each study focuses on a specific goal in the treatment of epidermolysis bullosa, such as testing the effectiveness of a new or modified medication or implementing a procedure such as stem-cell transplantation. The methods and organizations behind the studies may vary, but ultimately we hope that each of these studies will offer EB patients and their families some answers in the future.

If you are planning to participate in a clinical study, be sure to get all of the facts regarding eligibility and the trial’s ongoing requirements beforehand. And if you’ve participated in a study or are currently taking part and would like to share your own feedback about the experience, we’d love to hear from you. Just email us at leslie.rader@hollisterwoundcare.com.

Here is some information about some of the trials currently recruiting in the U.S. A few of the universities referenced below who are currently involved in these clinical studies, such as Stanford and the University of Minnesota, have additional EB-focused studies going on simultaneously. Click here for the complete list of all EB studies both in the U.S. and internationally that are currently recruiting participants.

  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. Dr. Alfred T. Lane of Stanford University’s School of Medicine heads up the study, one of the most recently active trials, in collaboration with the National Institute of Arthritis and Musculoskeletal and Skin Diseases. In this Phase 1 study, launched last December, doctors will create a graft of each participating RDEB patient’s skin and attempt to correct the cellular protein deficiency which causes RDEB in a culture, then transplant the corrected cells back onto the patient’s skin. Click here to learn more about this study at ClinicalTrials.gov.
  • Allogeneic Hematopoietic Stem Cell Transplant for Epidermolysis Bullosa. The team at the Masonic Cancer Center at the University of Minnesota is testing the safety and effectiveness of stem cell infusion for treatments of RDEB, based on animal models that have shown that stem cells can home in on the skin and repair biochemical and structural abnormalities associated with RDEB and its collagen 7 deficiency. Click here for more details about this study from ClinicalTrials.gov.
  • Effect of Thymosin Beta 4 on Wound Healing in Patients with Epidermolysis Bullosa. RegeneRx Biopharmaceuticals, Inc. is continuing to recruit Junctional EB and Dystrophic EB patients across ten locations nationwide for this study slated to continue through end of this year. The trial is designed to test the safety and tolerability of the Thymosin Beta 4 treatment, administered topically, as well as its lesion healing effectiveness. Click here to learn more about this study from ClinicalTrials.gov.
  • Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa. The team behind this Columbia University-sponsored study is seeking qualified patients to participate in trials at three locations. The study is trying to assess the event-free survival and overall survival for RDEB patients following Reduced Intensity Condition consisting of busulfan/flurdarabine/alemtuzumad (BFA) and Allogeneic Stem Cell Transplantation (ALLOSCT). To learn more about this study and its eligibility requirement, click here.

DebRA U.K., together with Intercytex and King’s College London, also announced the start of a Phase II trial with the Intercytex therapy ICX-RHY to treat skin erosions on patients diagnosed with severe RDEB. ICX-RHY is a suspension of human dermal fibroblasts (HDFs, which are naturally derived skin cells) in cell storage medium, for injection into the skin. The newly introduced HDFs are thought to repair the extracellular matrix to improve skin structure and function. Click here to read more about this recent news. As we learn more about the status of this clinical study and patient recruitment, we’ll be sure to include in future updates.


Epidermolysis Bullosa, Open Studies (U.S. National Institutes of Health)

Research Funding Announcement from DebRA U.K.

Related Posts:

Looking Ahead to 2011 EB Events

Free EB Information Resources

A Q&A with DebRA’s Nurse Educator

Fast Facts about EB

Fast Facts about EB

As patients, family members, caregivers and advocates, we each experience epidermolysis bullosa and its physical and emotional impact in unique ways. While interacting with those unfamiliar with the disease, we have an invaluable opportunity to educate others and motivate them to join the cause to raise funding and interest in supporting additional research for better treatments and ultimately, a cure for EB.

We’ve gathered some key points about EB worth sharing with others who are just being introduced to the condition, as well as some helpful links to learn more on the subject. Feel free to forward the link and share with your neighbors, classmates and colleagues, local media, business and community leaders and even legislators you might come in contact with, who can lend additional support to help spread the word.

  1. The phrase epidermolysis bullosa refers to the outer layer of skin (the epidermis) and “lysis,” representing a breakdown or deconstruction. “Bullosa” is a kind of blister.” The name literally refers to the breakdown and blistering of the outer layer of skin. (http://www.ebinfoworld.com/abouteb.htm)
  2. According to the National Institutes of Health (NIH), an estimated 2 to 4 of every 100,000 people in the U.S. have a form of EB, or approximately 12,000 people. (http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp)
  3. The NIH also notes that EB is a disease that shows no preference in terms of age, race, gender or ethnicity. It tends to impact males and females at about the same frequency and can sometimes take months or even years following birth to be diagnosed.
  4. EB is most commonly inherited as the result of a defective gene among those ten or more genes responsible for skin formation, but it may also result from a random gene mutation. The outcome may be one of three different main subtypes of EB: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. (http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015/DSECTION=causes)
  5. EB is most often identified by the following common symptoms: blisters on the skin, blisters on other internal membranes such as the throat or respiratory tract, thickening or absence of fingernails or toenails, thickened skin on his hands or feet, and anemia. (http://dermatology.stanford.edu/gsdc/eb_clinic/eb-faqs.html)
  6. While EB itself is not contagious, an EB wound can become infected. EB also can lead to a number of other complications including skin cancer (http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp#5) as well as kidney and urinary problems. (http://www.ebnurse.org/complication/index.html)
  7. Treatment of EB is a multi-disciplinary approach, since the condition affects so many different systems in the body. Patient care often involves the collaboration of the daily caregiver or nurse, primary care physician, dermatologist, pediatric dentist, nutritionist, teachers, family members and other specialists who may be needed for specific care needs such as a gastrointestinal specialist or a psychologist. (http://www.debra.org/abouteb#treated)
  8. Standard EB treatments center on the prevention and care of blisters and treatment of infection in existing wounds. On some occasions, patients may need to make changes to their diet or undergo corrective surgery to ensure proper digestion of food or proper swallowing in the esophagus. (http://www.internationalebforum.org/uploads/media/epidermolysis_bullosa_qa.pdf)