University of Rochester Clinical Research Survey

University of Rochester Clinical Research SurveyThe University of Rochester Medical Center is currently recruiting patients and caretakers of patients who have a rare disease diagnosis to participate in a research study that involves a one-time survey. This will help us understand your thoughts about and experiences with participating in clinical research. To read more information about the study click here: Rochester Study Information Sheet For participation information click here: Rochester Survey Direct link to the survey:
Clinical Research Survey
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University of Rochester CLN3 Research Study

University of Rochester CLN3 Research StudyFunction and Quality of Life in Juvenile Neuronal Ceroid Lipofuscinosis The University of Rochester Medical Center is currently recruiting parents of individuals with genetically confirmed (CLN3) Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) for a research study. The purpose of this study is to learn how to measure changes in function and quality of life of people with JNCL, using parent questionnaires. The study will ask questions about your child’s quality of life, physical, mental, and social health. The study will last a minimum of 18 months and up to 24 months. It involves completing a series of four online surveys once every six months. You must be a parent of an individual with genetically confirmed JNCL, able to speak English, and have access to a computer, internet and a current email address. You will be paid with a $25 gift card for each complete set of questionnaires, up to $125 for completion of 5 assessments over 24 months.
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CLN2 Enzyme Replacement Trial Opens First US Site

BDSRAWe are very happy to announce that the first United States site for the BioMarin CLN2 enzyme replacement study has been listed on Dr. Emily De los Reyes at Nationwide Children’s Hospital in Columbus and her co-PI, Dr. Lenore Leowald are currently assessing children to begin the study in December. To learn more about the official guidance, and criteria, go to  Tracy VanHoutan, Lance Johnston, researchers from universities all over the world and BioMarin have made this important advancement for families and children with our utmost thanks!
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Charlee Nelson Inspires Utah Legislation Named in Her Honor

The little girl who loved to sing, dance, and sing Twinkle, Twinkle Little Star was able to put a face on what it really meant to need a medical miracle, her mother said, which was her greatest gift for so many others facing severe seizure-inducing conditions.

Nelson familyFor Catrina and Jeff Nelson, losing their 6-year-old daughter Charlee on March 15, 2014, to late infantile Batten disease has been like a bad dream.  In the midst of their grief, the family stood in the private office of Utah Governor Gary Herbert the next day as Herbert signed “Charlee’s Law,” in a quiet ceremony.  Also known as HB 105, Charlee’s Law will allow those with intractable epilepsy to first acquire written permission from a neurologist and then apply for a waiver to import cannabis oil.  The Utah Legislature formally passed the bill March 13, 2014 after Charlee and her parents arrived on the floor of the House and Senate to witness the vote. According to Catrina and Jeff, Charlee held on until the legislation was passed after many weeks of severely declining health and complications.  After battling mononucleosis in October and surgery for a feeding tube, their daughter’s strength slowly diminished.  
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Columbus Clippers Deliver a Dream for Guest Announcer

Clifford at Clippers GameFriday, July 25, 2014 was a memorable day for the Dahl family of Chatham, Illinois. Parents David and Corrina, and their sons Clifford, 17, and Isaac, 12, set out not just to attend a minor league baseball game at the Huntington Park in Columbus, Ohio. Their quest was giving Clifford the chance to realize a long-held dream – to be a sports announcer.
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International Partners Advance Batten Disease Research Targets

150x150BDSRA, in collaboration with international and family foundation partners,
has announced grants totaling $408,000 to advance research in Batten disease.      International Funding Partners Advance Batten Disease Research Targets   COLUMBUS, OHIO (April 24, 2014)  The Batten Disease Support and Research Association (BDSRA), in collaboration with international and family foundation  partners, has announced grants totaling $408,000 to advance the development of treatments and cures for Batten disease. Co-funders BDSRA-Australia, the Batten Disease Family Association of the United Kingdom, Noah’s Hope, and Hope 4 Bridget joined with BDSRA to support projects that span the United States, the United Kingdom, Australia, and Germany.   Investigations to identify drug targets, drug discovery, and expand a patient registry have been funded through awards to six researchers:  David Palmer, PhD, Lincoln University of New Zealand; Stephan Storch, PhD, University Medical Center Hamburg-Eppendorf, Germany; Angela Schulz, PhD, University Medical Center Hamburg-Eppendorf, Germany; Jonathan Cooper, PhD, King’s College, London; Jeffery Gerst, PhD, Weizmann Institute of Science, Israel; and Erika Augustine, MD, the University of Rochester.
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April 2014 Newsletter

April 2014 NewsletterBDSRA announces global research grants and programs in April Newsletter.  In collaboration with international and family foundation partners, BDSRA has awarded research grants for 2013 that span the U.S., Australia, Germany, and the United Kingdom.  Proposals were funded that focused on identifying drug targets and drug discovery, developing a patient registry, and expanding projects in the basic biology of Batten disease.  To read more details as well asnews about programs, conference, and families, go to April Newsletter
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