Oyster Bay, NY – A study location for an observational study of Hermansky-Pudlak Syndrome has opened at Loyola University in the Chicago area. Hermansky-Pudlak Syndrome, or HPS, is a type of albinism that involves other health-related issues beyond low vision and pigmentation such as a bleeding disorder, and in some gene types, bowel and lung issues. The lung disease of HPS is called Pulmonary Fibrosis and causes a scarring of the lungs that, without a lung transplant, is ultimately fatal. HPS occurs around the world, but is most common in people who trace their family roots to Puerto Rico.
This observational study will help researchers identify the earliest measurable pulmonary disease activity in people affected by HPS. It also hopes to identify biomarkers that will aid in the understanding of the cause of pulmonary fibrosis in those with HPS types 1, 2 and 4. This could help facilitate more rapid conduct of therapeutic trials in HPS for patients with early lung disease in the future.
The study is part of the Rare Lung Disease Consortium and is co-sponsored by Vanderbilt University, the University of Florida, the National Institutes of Health (NIH) and the National Heart, Lung and Blood Institute (NHLBI).
Eligible people are those with HPS, ages 12 to 90, with any HPS gene type. The observational tests could include a blood draw, urine samples, breathing tests and a CT scan.
To learn more about the study, or how you might participate, contact the HPS Network, (516) 922-4022 or e-mail: firstname.lastname@example.org.
The National Organization for Albinism and Hypopigmentation (NOAH) is sponsoring a scholarship to help with registration fees for the Space Camp for Interested Visually Impaired Students (SCIVIS) at the U.S. Space and Rocket Center in Huntsville, AL. The scholarship only assists with the camp registration fees. Transportation and other expenses are up to the camper’s family to cover. The deadline to apply is rapidly approaching. To apply, find out more at: http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9260627/k.B03/Programs__Services__Space_Camp_Scholarship.htm
Donna Appell, Executive Director and Founder of the HPS Network, has been nominated for the Eagle Rare Life Award, a contest held by the Eagle Rare Bourbon company. To win, however, she needs your vote every day until Dec. 5th. If Donna wins, the prize is $50,000. There are also six runner-up awards of $5,000 each. Voting can get us into the top 30 finalists, but after that, the votes are 20 percent of the score. You can only vote every 24 hours. It just takes a second! Go to: http://eaglerarelife.com/content/donna-appell
The Boxcar Bar and Arcade in Greensboro, N.C. held an Fundraiser Night on June 28 to benefit the HPS Network. They donated 15 percent of sales to the HPS Network from the night. Karen and Tommy Tillman worked with Boxcar on the event and offered information about the HPS Network that night. Boxcar Bar and Arcade is a bar that also offers an array of video game classics the way you might remember them from the video game arcade days, from Pacman to Pinball. Attendees spent the evening playing games and having fun while raising more than $400 for the HPS Network!
Heather Kirkwood, VP and Director of Communications for the HPS Network, represented the HPS patient community at the first NCATS Day at the National Institutes of Health (NIH). NCATS, or the National Center for Advancing Translational Science, is one of 27 institutes and centers at the National Institutes of Health (NIH). It is charged with transforming the translational process so that new treatments and cures for disease can be delivered to patients sooner.
Each section of NCATS gave a short presentation on its function, and then attendees were divided into six groups to discuss how NCATS can better, and most efficiently, interact with patient communities to ensure the patient voice is included in the research process.
“I was really impressed with the number of NCATS staff that attended the event, and how truly excited they seemed to be interacting with the patient community,” said Kirkwood, “I’m really looking forward to participating in future NCATS events and watching this process unfold further.”
Jean-Marc D. Quach, President and CEO of the Alpha I Project Inc., and Michael Iannotti, PhD and Postdoctoral Fellow with the Division of Pre-Clinical Innovation at NCATS gave a joint presentation on how the Alpha 1 community and NCATS have partnered on Alpha 1 research. “It was a great presentation. Coming from a journalism background, I love case studies and look forward to seeing more of them representing all type of patient groups of all sizes and resource levels,” said Kirkwood.
Much of the day was then spent between NCATS staff and community representatives to exchange ideas and provide feedback.
The documentary RARE, which followed the HPS Network through the process of a clinical trial during a three-year period, is available for DVD purchase. Be sure to use this link that takes you to the home video section of the distributor’s website. It is sold elsewhere on the site to institutions or organizations that will screen the film publicly and is more expensive there. These copies are intended for home viewing. http://homevideo.icarusfilms.com/fanlight/rare.html
Dr. Jesse Roman was awarded the Doctor of the Year Award at the 24th Annual Hermansky-Pudlak Syndrome Network Conference, held March 10 – 12 at the Long Island Marriott in Uniondale, N.Y.
Dr. Roman is a Professor of Medicine, Pharmacology and Toxicology at the University Of Louisville School Of Medicine. He is also Chairman of the Department of Medicine, Chief of the Division of Pulmonary, Critical Care and Sleep Disorders Medicine and a Distinguished University Scholar. Dr. Roman has taken on helping patients with Hermansky-Pudlak Syndrome as a personal cause. He lead the way by reaching out to contacts and partners in Puerto Rico to establish a clinic for patients with HPS in Puerto Rico. He is originally from Puerto Rico, where he attended medical school at the University of Puerto Rico and did his residency at San Juan Veterans Affairs Medical Center. He also completed a fellowship at Washington University.
Amber Klein, and her dad Jeff, once again sold Dare to be Rare merchandise at the Power Pro Wrestling event, held at the Ellendale Fire Company in Ellendale, Del. on June 17th. Amber and her dad have worked in partnership with Power Pro Wrestling for many years to raise money for the HPS Network. At this event, they sold t-shirts and had a donation jar available for anyone not wanting to make a purchase, but eager to help fund the cure for HPS.
If you attended the HPS Network 2017 Conference, but you did not turn in your conference survey, please fill out the survey online now. We need your input to plan next year’s event. It is also helpful when searching for funding to help support the event. You can complete the survey online at: https://www.surveymonkey.com/r/5M8D7PG
The HPS Network is one of more than 220 patient organizations urging Congress to pass the Orphan Products Extension Now Accelerating Cures and Treatments Act (OPEN Act). This legislation would offer incentives to pharmaceutical companies to repurpose existing drugs to treat often life-threatening rare diseases by giving them an extra six months exclusivity for an FDA approved drug or biological product when it is FDA approved for a new indication. It is estimated the legislation could expand the number of FDA approved treatments for rare diseases by hundreds. Currently, many treatments for rare diseases are off label and thus can’t always be covered by insurance. To tell your Congressional representatives to support this legislation (H.R. 1223), go to: http://rareadvocates.org/everylife-foundation-urges-advocates-members-congress-co-sponsor-open-act/