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February 2019 Volume 30, Issue 2
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January BDSRA Board Meeting Recap
The BDSRA Board of Directors held their semi-annual meeting in January in Orlando, where they gathered to review what happened in 2018 and make plans for 2019 and beyond. They welcomed new board members Brock Benroth and Trent Lewis, as well as returning board members Bob Jensen, Chad Killen and Tony Ferrandino.
Special recognition was given to Tracy Kirby and Noreen Murphy for all their efforts during the Executive Director transition including their travel and representations at research conferences around the world and work to keep the organization running on a daily basis. Please thank them when you have an opportunity.
Highlights of this year's winter meeting include:
- Successful implementation of the Batten Family fund with multiple families having been helped this past year.
- Presentations were made by pharmaceutical companies about research status and potential upcoming clinical trials.
- Financials and 2019 Budget were discussed
- Charlie Leffler and Steve Thompson gave updates on the new Memorial, which is anticipated to be in place by our July conference.
- Updates were given on our Executive Director search. Interviews have been occurring by phone and face to face with candidates meeting various board members and staff. Our hopes are to have a new Director in place in the next several months.
- Call for Letters of Intent are being sent to researches for grants that are expected to be announced at our July meeting.
- Updates were given on the status of our Strategic plan and most of our goals for 2018 have been accomplished with work already occurring for our 2019 goals.
- Noreen and Tracy gave updates on our upcoming Conference in Denver July 18-21. Registration and hotel reservations should be open in March.
- JNCL Education Books are being published and expected to be available by conference
The next in-person Board of Directors meeting will be on July 18th in Denver.
Thank you to all board members that gave of their time and talents to attend at their own expense, and to our awesome staff that helped arrange and participated in the meeting. Your contributions are greatly appreciated.
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Rare Disease Day 2019
February 28th is Rare Disease Day 2019! Below are a few ways you can get involved.
Join advocates, patients, and parents from all over the country on Capitol Hill for a week filled with advocacy events. Click on the title above to sign up for events and find out more information about Rare Disease Week.
Follow Rare Disease Day and join their Show Your Stripes Campaign on social media. Throughout the day they will be posting about rare disease. They also provide sample rare disease day posts and letters you can send to your local newspaper.
Share Why You #CareAboutRare!
Make your voice heard as you rally for rare. You can download and print the
#CareAboutRare sign
to show the world why you care about rare this February. Take a selfie, and tag it with #CareAboutRare and #WRDD2019 on your favorite social channels. If photos aren't your thing, download the
social sharable
.
Sponsored by NCATS and the CC, this year's event will feature interactive panel discussions on collective research models for rare diseases, patient registries, rare cancer research initiatives, and "no disease left behind, no patient left behind." New this year will be a presentation of the first ever Zebbie award for the NCATS Rare Diseases are Not Rare! Challenge. Other highlights include posters and exhibits by rare disease groups and researchers as well as artwork, videos and CC tours. Admission is free and open to the public. You can also sign up to watch the a webcast of the event.
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Ferrandino Family Casino Night
BDSRA was honored to attend the 4th Annual Drew's House of Hope Casino Night, held February 2nd at the Northhampton Valley Country Club in Richboro PA. Over 150 guests enjoyed dinner, a silent auction, many table games and a raffle that had over 25 prizes, all donated by local businesses.
The event is
held in memory of Drew Ferrandino, and raised over $20,000. We are grateful to receive funds from this event to help support BDSRA and CLN2 research.
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WORLDSymposium
BDSRA spent a week at the WORLD
Symposium
on Lysosomal Diseases in Orlando, Florida.
This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.
There were two platform presentations on Batten disease, you can view the entire program
here.
Steven J. Gray
University of Texas Southwestern Medical Center (Dallas, TX, United States)
Intrathecal and intravenous combination gene therapy in the mouse model of infantile neuronal ceroid lipofuscinosis extends lifespan and improves behavioral outcomes in moderately affected mice
Angela Schulz
University Medical Center Hamburg-Eppendorf (Hamburg, Germany)
Persistent treatment effect of cerliponase alfa in children with CLN2 disease: A 3 year update from an ongoing multicenter extension study
There were also a number of posters on Batten disease, you can view a full list of posters
here.
Nora Atanacio
Clinical, biochemical and molecular characteristics of five patients with late infantile neuronal ceroide lipofucsinosis type (CLN2 disease) phenotype clasical and atypical
Tyler Johnson
Characterization of a novel porcine model of CLN3-Batten disease
Scott Kerns
An improved, novel, systemically administered AAV gene therapy for treatment of CLN3 juvenile neuronal ceroid lipofuscinosis
Zoltan Lukacs
Twelve-year experience with a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Laura Pollard
Multiplex DBS enzyme assay for MPS II, IIIB, IVA, VI, VII and CLN2 via LC-MS/MS expands clinical utility of DBS enzyme testing
Jill Weimer
Promise of AAV9 gene therapy in the treatment of Batten disease: Systematic approach in therapy design reduces pathological and behavioral deficits and prolongs survival in mouse models of CLN3-, CLN6-, and CLN8-Batten disease
Jacob Cain
Identifying a biomarker signature for Batten disease
William Pardridge
Platform technology for treatment of the brain in lysosomal diseases: Application to NCL1 Batten disease
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Resource Corner: Tube Feeding
Ensuring that your child is getting proper nutrition while being tube fed is a concern of many in our Batten community. Below are a few resources on tube feeding, we would love to know of any others that parents and caregivers have found valuable. Feel free to email your suggestions to
[email protected] or post them in our Facebook group.
Feeding Tube Awareness Foundation
"This website is dedicated to providing pragmatic information for parents and car
egivers on handling every aspect of tube feeding and navigating day-to-day life with a child who is tube-fed. Our education materials are written in lay terms by those with personal experience. They are reviewed by medical professionals, and have been distributed by hundreds of children's hospitals, medical practices, and medical supply companies."
The Oley Foundation
"The Oley Foundation is a national, independent, non-profit 501(c)(3) organization that strives to enrich the lives of patients dependent on home intravenous nutrition (parenteral) and tube feeding (enteral) through education, advocacy, and networking. The Foundation also serves as a resource for consumer's families, clinicians and industry representatives, and other interested parties. Programs are directed by the staff and guidance is provided by a board of dedicated professionals and patients."
Feeding Matters
"
Feeding Matters is furthering advances in pediatric feeding disorders by accelerating identification, igniting research, and promoting collaborative care for children and families."
Tubie Friends
"Tubie Friends a non-profit group that is administered by two mothers whose children have feeding tubes and want to use their experience to make life easier for the thousands of children relying on feeding tubes for their nutrition. Tubie Friend Surgeons (TFS) are volunteers who care for or love tube feeders and donate their time and resources. Many of us are still in the trenches with you, which means that sometimes our kids have surgeries, procedures, tests, or hospital stays that takes our time away from Tubie Friends applications and processing."
Tube-Fed Kids Deserve to Eat
"The membership of Tube Fed Kids is primarily parents of past and present tube fed children. The forum is solely for the purpose of sharing experiences and supporting other parents during their own tube feeding/weaning journey. This site is run by parents for parents."
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Call for LOI
The Batten Disease Support and Research Association (BDSRA) has issued a request for letters of intent (RLOI) for the 2019 research grant cycle. BDSRA supports scientific investigations through an annual merit review process, awarding grants to researchers throughout the world.
For the current call for LOIs, BDSRA seeks innovative research projects that have the potential to advance therapeutic strategies for all or any of the Neuronal Ceroid Lipofuscinoses. Each award, depending on funding availability, will be no more than $40,000 for a one-year period.
Letters of intent must be submitted by March 25, 2019. The LOIs will be reviewed by members of the BDSRA board and invited scientific reviewers. Requests for full proposals that will be peer reviewed will be made in
April, 2019.
As always, the scientific merit of projects is paramount. We also greatly encourage projects that will pull together multiple funding sources, cross-lab collaborations, and projects that have promise of future NIH, DOD or other government, or industry funding.
LOI guidelines can be found
here.
Please contact us at
[email protected] if you have any questions.
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Recent Fundraising Events
This month we have new Facebook fundraisers organized by:
We are so excited each day to log in and see the list of your names growing. Thank you for sharing and supporting our mission on social media!
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In Loving Memory
Remember with us those we have lost to Batten disease. It's in their honor and memory that we work every day to build a brighter future for families.
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Thank You BDSRA Community of Donors!
Thank you to the donors last month who gave so generously to honor and in memory of loved ones and our community as a whole. We want to acknowledge you for your contributions. They allow us to keep serving families and advancing the science of a meaningful treatment. Your dollars and support have helped create the leading patient organization in the Batten disease community, and we are dedicated to continue that legacy of children and families.
View recent donor gifts
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Your gift makes all the difference in the lives of families.
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