Our combined objectives are to prevent, diagnose, treat and cure juvenile Batten disease. To achieve these goals, we are engaged in multiple partnership activities with other affected families, Batten disease nonprofits, research institutes, government advisories, Pharmaceutical companies, regulatory experts and high-profile foundations committed to fighting neurodegenerative diseases.
To prevent and diagnose Batten disease Beyond Batten Disease Foundation (BBDF), together with the National Center for Genome Resources and Children’s Mercy Hospital and Clinics in Kansas City, created an easy and inexpensive, groundbreaking blood test to detect the gene mutations that cause juvenile Batten disease as well as 600 other rare, serious, and often fatal childhood ailments. The test has been published in Science Translational Medicine and in mainstream media like the New York Times. Furthermore, the approach was featured on the cover of the December 24, 2012 issue of Time Magazine.1, 5, 6
Over 90% of the 225,000 medical research foundations in the US never reach the annual $1 million minimum considered necessary to make a difference.2 This problem is compounded by the fact that the vast majority lack full-time scientific leadership relying instead on part-time advisory panels with little to no pharmaceutical or regulatory expertise.
To combat these problems, BBDF is led by a full-time neurobiologist with experience building research funding programs. Dr Kerkovich has gathered multidisciplinary experts from basic science to drug discovery, to preclinical testing and clinical trial design to create a unified strategy to develop treatments for Batten disease. We cannot wait for discovery to translate itself or for the Pharmaceutical Industry and federal funders to notice us. By co-developing and driving a carefully designed plan with key experts and benefactors, we are moving forward and making substantial strides in the fight against juvenile Batten disease. We are so thankful for the amazing support of affected families, their loved ones and communities, other Batten disease foundations, charities and nonprofits from around the globe. Our connections with Pharmaceutical Industry experts, federal funders, legislative decision-makers, regulatory affairs and high-profile foundations in common neurodegenerative diseases, has accelerated the timeline to treatment.
In 4 short years, Beyond Batten Disease Foundation has invested $6 million in its programs and has leveraged these funds by securing over $6 million in additional direct funds from partnerships and investments from other NGOs and federal funders in the US and abroad to support our juvenile Batten disease research priorities. In the same time period we have invested over $12 million, the US NIH has spent $6.2 million on juvenile Batten disease research.3
Increased understanding of the molecular basis of Batten disease has established compelling evidence Batten disease gene function may be implicated in Parkinson’s disease, Frontotemporal lobar degeneration, Gaucher, progressive myoclonic epilepsy and even amyolateral sclerosis (ALS).4
Together with the Alzheimer’s Drug Discovery Foundation (ADDF), the Batten Disease Support and Research Association, and NCL-Stiftung, BBDF sponsored juvenile Batten disease investigators to attend the ADDF “5th Drug Discovery in Neurodegeneration: An Intensive Course on Translating Research into Drugs,” immediately followed by a one-day conference focused exclusively on drug discovery in juvenile Batten disease.
While researchers have made headway in understanding Batten disease to find potential drug targets, the gap between basic research and clinical treatment, known as the Valley of Death, remains. To overcome this gap, BBDF created a plan for shepherding discoveries into clinical trials titled, “Designing a Plan for Drug Discovery in Rare Pediatric Neurodegenerative Disease” published in Cerebrum magazine of the Dana Foundation.
In June of 2012, BBDF announced its partnership with the American Brain Foundation (of the American Academy of Neurology) to create the first “Clinical Research Training Fellowship in Juvenile Neuronal Ceroid Lipofuscinosis,” an important milestone in the fight against juvenile Batten disease because it will help translate basic research findings quickly and efficiently into medical practice.
BBDF initiated a co-funding relationship with the Alzheimer’s Drug Discovery Foundation and the National Multiple Sclerosis Society to support the creation of the Collaborative CNS Screening Initiative (CCSI). Led by the Harvard NeuroDiscovery Center’s Laboratory for Drug Discovery in Neurodegeneration, the CCSI library will be made available to eleven participating centers to include in their ongoing screening for neurodegenerative diseases, which will increase the exposure of shared compounds to a wide range of assays and overlapping neurodegenerative diseases.
Our participation in bringing together Batten disease foundations across the globe under a single strategy has increased the visibility of Batten disease. The result has been a 250% increase in the average nonprofit Batten disease research grant from $40,000 to $100,000 enabling significant advancements in Batten disease research. Together with BDSRA, NCL Foundation, Batten Disease Family Association, Contact Punt NCL, Hope for Bridget, Noah’s Hope, the European Task force on Brain and Neurodegenerative Lysosomal Storage Diseases, Luke and Rachel Batten Foundation, and Taylor’s Tale, we are moving the needle.
Opportunities for Batten Disease Foundations
BBDF is dedicated to accelerating Batten disease research through the strategic placement of research funds. We are empowered with expertise from around the world in all research sectors driving us in promising directions with reason to be optimistic, hopeful and energized.
Foundations who would like to take advantage of BBDF’s State of the Art scientific merit and translational review process are welcome to contact BBDF for help identifying research investment opportunities.
Alternatively, BBDF can empower other foundations, individuals or groups dedicated to the fight against Batten disease with a menu of high-calibre, pre-vetted scientific projects at multiple price points to choose from.
A third option is to create a donor-advised fund inside BBDF. BBDF will provide administrative and scientific leadership through the maze of research funding choices to bring you opportunities to choose from without the hassle of managing administrative tasks or the stress of vetting opportunities.
Opportunities for Neurodegenerative Disease Foundations with or without Lysosomal Storage Disease
Increased understanding of the molecular basis of Batten and other neurodegenerative diseases provides compelling evidence that the molecular underpinnings of neurodegenerative diseases overlap and have common disease mechanisms that could serve as multifunctional drug targets. Foundations, Industry experts and others interested in developing joint projects are highly encouraged to contact BBDF.
Opportunities for Industry
The field of scientific research is constantly evolving and changing. In recent years, there has been an explosion of advanced technology leading to the development of contract research organizations and other industry specialists inside niche markets that address specific areas along the continuum of basic discovery to clinical implementation. BBDF wishes to work closely with academic researchers and industry leaders to catalyze and support ideas with the most promise for therapeutic development. If your company is interested in joining the fight against Batten disease, please contact Dr. Kerkovich, Principal Scientist of Beyond Batten Disease Foundation.
Please contact BBDF:
- If you would like BBDF’s support to reach your research funding goals
- If you would like to consider establishing a donor-advised research fund
- If you would like help understanding the landscape and state of the science in Batten disease research
- If you would like access to BBDF resources, Batten disease researchers, and emerging ideas
- If you have an idea for a targeted partnership at a specific stage of of discovery and development
- Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Trans Med. 2011 Jan 12;3(65):65ra4.
- Cotman SL, Karaa A, Staropoli JF, et al. Neuronal Ceroid Lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep 2013Aug;13(8):366.
- Kingsmore, S (2011, August 5) Email interview.
- NIH RePORTER [Internet]. Bethesda (MD): National Library of Medicine (US). NIH Research Portfolio Online Reporting tools (RePORT); 2009 [updated weekly; cited 2013 July 24]. Available from: http://projectreporter.nih.gov/reporter.cfm
- Rochman B. “The DNA Dilemma: A test that could change your life” December 24, 2012. http://www.time.com/time/magazine/article/0,9171,213532,00.html.
- Saporito B. Time in partnership with CNN. “Check your Charity!” June 2, 2011. http://www.time.com/time/specials/packages/article/0,28804,2075133_2075127_2075103,00.html.