Batten Disease Support and Research Association RFP 2013 Title

Batten Disease Support and Research Association RFP 2013
Research Grant
URL for
more info
Batten Disease Support and Research Association (BDSRA)
May 13, 2013
Anticipated Other
Mandatory Invite
Proposals must be submitted by the
Requirements Ph.D./M.D./Other Professional
The BDSRA is pleased to announce that funds are available to conduct research directly relevant to all forms of Neuronal Ceroid
Lipofuscinosis (NCL, Batten disease), rare, fatal, lysosomal neurodegenerative disorders that strike infants, children and adults.
Research is needed across a broad spectrum addressing the underlying mechanisms of neural dysfunction and degeneration in
each form of NCL from dysfunctional soluble lysosomal enzymes (PPT1, TPP1, CTSD), transmembrane proteins (CLN3, CLN6,
MFSD8, CLN8) and other proteins implicated in lysosome function, membrane trafficking, or neurotransmitter release (CLN5,
CSPα). Proposals will be considered for all forms of NCL, with emphasis on CLN1, CLN2, and CLN3. BDSRA also seeks to fund
research projects in Batten disease that address immediate challenges of diagnosing and treating patients – epidemiological
studies, natural history studies, medication management etc.
Investigators are invited to submit proposals in the following areas or submit ideas of their own. BDSRA does not
presently support proposals that fall into the category of social science, psychology or family services.
Professional Society or Association
The maximum award is $100,000 USD. Three-year or more proposals are
generally discouraged unless there are extenuating circumstances or the
study/project requires it. All grant award(s) must be used to cover direct
costs of the project/ investigation and may not be used for indirect or
overhead costs. All awards, including Postdoctoral fellowships, will be paid
in six month increments following submission of progress reports for review.
Retrospective chart analyses. BDSRA seeks to fund a large-scale retrospective chart analysis in each form of
Batten disease. This will be a key step in developing natural histories, informing clinical care, improving existing scales
and may help identify potential biophysical markers of disease progression and/or treatment.
Cardiomyocytes as comparative cell models to neurons in Batten disease. Recent reports highlight survivable
cardiovascular changes in some forms of Batten disease. Because cardiomyocytes exhibit similar characteristics with
neurons and withstand more laboratory manipulation, these cells may serve as an important parallel cell model for the
primary defects in neurons while providing investigators with new tools and an accessible organ outside the blood
brain barrier. Therefore, BDSRA will consider molecular and cellular investigations into the cardiovascular
pathophysiology; neural control of cardiovascular function, cell transport and metabolism, cellular electrophysiology
and ion channels, and excitation contraction coupling for the purpose of creating additional cell models that address
the unsurvivable effects of Batten disease.
Neuroscience/Neurobiology of Batten disease. Many questions in Batten disease beg investigation in neurobiology,
neurochemistry, neurophysiology, neuropharmacology, etc. BDSRA seeks proposals that answer key questions
important for understanding disease pathogenesis and the brain’s response to disease.
Drug Discovery. While many questions remain regarding the pathogenesis of Batten disease, BDSRA also seeks
proposals that focus on target validation, development and testing of novel of high throughput screening assays, the
testing of potentially disease-modifying lead compounds and medical chemistry on lead compounds. The goal of the
association is to fund an unbroken and iterative spectrum of activity from basic discovery through clinical
BDSRA seeks rigorous structure activity relationship (SAR) studies of small molecule leads in all
forms of NCL. Preliminary evidence suggests that some compounds (e.g. Cystagon, Antiepileptics) produce
desirable and undesirable effects in in vitro models, in vivo animal models or children with Batten disease.
In some cases, the precise mechanism of action is unknown, unknown in relation to Batten disease, or
unproven in humans. Therefore, BDSRA seeks to fund precise biochemical analyses to understand putative
drug targets under normal and disease-state conditions. These studies should aim to create a plan for
rational drug design, enhance bioavailability, or improve efficacy of promising compounds while
reprioritizing others. (NB - Preliminary evidence suggests that Cystagon may be improved through rational
design and/or combination therapy).
Translation Support. We are in an exciting time in Batten disease research as the number of discoveries is
increasing, their potential to be important drug targets is being explored, and the number of compounds available to
evaluate for their potential to treat Batten disease is expanding. In order to take full-advantage of these opportunities to
advance Batten disease research toward clinical trial success and commercial development, BDSRA will help
investigators with promising results obtain resources for advancing their research beyond basic discovery. Examples
include engaging FDA consultants to prepare for Investigational New Drug status, reaching out to research
methodologists and statisticians to improve clinical trial designs, and locating commercial partners.*Please contact Dr
Kerkovich ([email protected]) to discuss your ideas before attaching a free-form justification to
administrative pages of the application form.
Practice Guidelines for the management of Batten disease. BDSRA seeks to fund the development of practice
guidelines for the diagnostic confirmation and management of individuals with Batten disease. Literature reviews,
consensus statements created by a panel of international experts in clinical and laboratory diagnosis or treatment and
management and endorsement from appropriate international professional societies such as the American Academy of
Neurology, American Association of Neuroscience Nurses, etc. is required. These guidelines will serve as an
educational resource for clinicians new to Batten disease. Therefore, it is expected that they will follow the Institute of
Medicine’s Standards for Developing Trustworthy Clinical Practice Guidelines
( and be widely
disseminated in the most appropriate form and forum. The authors will be provided with $5,000 to create practice
guidelines based upon the current state of science and clinical care and $10,000 if their plans include the creation of
an international working group dedicated to developing additional guidelines across multiple levels of care -- seizure
management, occupational therapy, nutrition etc. .*Applicants must send an email request for consideration of their
topic area to Dr Frazier ([email protected]) for approval before attaching a free-form grant application to
administrative pages of the application form.
A note on research priorities: In addition to scientific merit, proposals are also scored for their potential significance to
provide information important for the development of therapies to treat the primary effects of Batten disease. Applicants
are encouraged to contact BDSRA for more information prior to developing their proposals.
Lysosomal Storage Disease
Neurodegenerative Disease
Drug Discovery
High-throughput screening
Metabolic Diseases
Practice Guidelines
Cell Models
PhD Postdoctoral Award
MD, PhD, or DO Independent Investigator Award
MD, MD/PhD, or DO fellow enrolled or through the third year of training in neurology, pediatrics or other appropriate discipline
Margie Frazier, PhD
Executive Director | Batten Disease Support and Research Association
1175 Dublin Road
Columbus, OH 43215
United StatesPhone:
+1 (800) 448-4570/+1 (740) 927-4298
[email protected]
Contact Info
Danielle M Kerkovich, PhD
Scientific Officer | Batten Disease Support and Research Association
+1 202-812-6462
[email protected]
All proposals must be submitted electronically using BDSRA’s application form found on BDSRA’s website at and sent to [email protected] AND [email protected] identified
by the investigator’s last name.
Recipients of awards from BDSRA, in addition to providing progress reports, are required to provide to BDSRA copies of any publications, abstracts, etc. resulting in whole or in part, directly or indirectly, from research funded
by the award. Appropriate acknowledgment of BDSRA funding must be noted in such publications. In addition, if a recipient's research that has been funded by the BDSRA results in any new discovery or invention that may
provide benefit to individuals with Neuronal Ceroid Lipofuscinosis (Batten disease), the BDSRA shall retain the right to use, as it deems appropriate, such discovery or invention for non-commercial research purposes.
Furthermore, the recipient and/or the recipient's institution shall immediately notify the BDSRA, if BDSRA funds have supported research that results in the recipient and/or the recipient's institution seeking to make any
commercial gain, patent application or secure any other proprietary rights to legally protect any discovery or invention resulting, in whole or in part, directly or indirectly, from the research. The BDSRA shall be entitled to an
equitable share of any patent, proprietary right and/or commercial gain that accrue to the recipient and/or the recipient's institution as a result, either in whole or in part, directly or indirectly, of BDSRA funding. The BDSRA's
equitable share shall be based upon the level of contribution the BDSRA funding had on the research.
BDSRA requires models, cells and mice developed with BDSRA funds be openly shared with the scientific community upon description of their development or use in a peer-reviewed publication. As a condition of funding,
resources must be placed in a repository and/or the commercial sector for their continued development, management and dissemination. Applicants are encouraged to contact BDSRA with questions associated with this
requirement or any other issue with respect to funding.