2014 Research Awards

2014 Research AwardsIn 2014, the BDSRA reached out to dozens of researchers to invite Letters of Intent (LOI) or short proposals to preview work they would like to accomplish in the following year with a maximum of $60,000.  Once these LOIs were narrowed to requests for full proposals, nearly 30 researchers from universities, children’s hospitals, and industry stepped in to provide peer reviews on a volunteer basis. Noah’s Hope, Drew’s Hope, Hope4Bridget, BDSRA-Australia and the Batten Disease Family Association in the United Kingdom have partnered with BDSRA to co-fund these important projects. Meaningful Endpoints for Phase III Clinical Trials in Juvenile Batten Disease (CLN3)
Principal Investigator: Heather Adams, Ph.D., University of Rochester $45,000, BDSRA This work helps researchers working in the Juvenile, CLN3 world have a guidepost on which to judge if treatments are working.  The meaningful endpoints will be informed by years of work with CLN3 patients and their families. INCL Gene Therapy Using AAV9 Vectors (CLN1)
Principal Investigator: Steven Gray, Ph.D., University of North Carolina, Chapel Hill $50,000, BDSRA Dr.
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BDSRA Board Nominations Open

BDSRA Board Nominations OpenThere are 2 open seats for the BDSRA Board of Directors for the new term beginning January 2016. Those interested in running for a board seat or nominating an individual should contact Mike Collins at mikec1623@gmail.com by October 25th for details. Board ballots will be mailed to all BDSRA members on November 20th. For more information go to BDSRA board nominations. Membership dues may be paid online at BDSRA Membership.
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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 clinicaltrials.gov. 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 http://1.usa.gov/1Hr3IbI.  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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