Innovator Spotlight

Q: What prompted the creation of the Beyond Batten Disease Foundation (BBDF)?
Craig and Charlotte Benson established Beyond Batten Disease Foundation (BBDF) in 2008 after their then five-year-old daughter, Christiane, was diagnosed with juvenile Batten disease. Together with life science business leaders, in-house scientific expertise, teams of carefully chosen pharmaceutical and regulatory consultants, other affected families and passionate supporters who share our strategy, hope and resolve, we are working tirelessly to create a brighter future for Christiane, and all children with juvenile Batten disease. We are accomplishing our mission in two ways: 

  1. Prevention and diagnosis: We have developed an easy and inexpensive carrier and diagnostic screen for juvenile Batten and hundreds of other rare, devastating, and preventable conditions
  2. Treatment and cure: We are spearheading an aggressive, forward-thinking, strategy that crosses the divide between basic discovery and clinical implementation to cure juvenile Batten disease.

Q: What were the challenges in Batten disease research that you felt BBDF could help address?
Created by passionate reaction to need, over 225,000 nonprofit research foundations exist within the US. The vast majority never reach the annual $1 million mark estimated to be necessary to make a difference. Even more lack in-house scientific leadership, vital to identifying disease-specific research and development needs and creating a successful plan of action. 

Craig Benson, BBDF's founder and CEO of a successful life sciences company, saw an opportunity to bring together business leaders and experts across the continuum from fundamental research to commercial development to create, fund, and execute a strategic plan to prevent, diagnose and treat juvenile Batten disease. Similar to thousands of other rare diseases, juvenile Batten research was led by a too small group of academic researchers woefully underfunded with a revolving student workforce. The growing divide between basic research and treatment, also known as the "Valley of Death," was largely unrecognized. The perception that a single "Eureka" moment sat undiscovered and once found, would result in immediate treatment success was pervasive. The 46 Batten disease foundations fundraising in starvation mode were spreading funds among investigators who, in turn, were unintentionally inhibiting progress by publishing confounding results obtained with minimal resources. To be successful, Batten foundations need to gather under a single, cohesive, therapy-focused, dynamic, strategy and pool their funds to provide researchers with advanced technologies and disease-specific tools capable of producing solid findings. In our first five years, we have overcome many of these challenges and are making tremendous progress.

Q: Can you tell us a bit about BBDF's research strategies and how they help overcome the barriers you've identified?
To meet the challenges of a small, academic, workforce with few funds, minimal resources, and little knowledge of pharmaceutical science, the foundation hired Danielle Kerkovich, Ph.D. Dr. Kerkovich performed a gap analysis to assess critical unmet needs along the juvenile Batten disease therapeutic pipeline. This information, coupled with experience, was used to create a well-informed, leveraged strategy to recruit leaders in research, fill knowledge gaps, and to create much-needed resources. 

Over 40% of all published discoveries never receive attention beyond a single publication and therefore, are never transformed into treatment. Sadly the vast majority that do receive attention, cannot be replicated. To be successful, we must incorporate pharmaceutical, materials, methods and business practices into early research. BBDF recruits drug discovery experts and creates drug discovery platform projects within the neurodegenerative disease community. 

To stay on track, BBDF created a dynamic, integrated, expert multidisciplinary body for the Batten disease research community. This rigorous review committee provides academic investigators, foundation partners, clinician scientists, and industry with independent and objective guidance on advancing therapy at all stages of development. 

Traditional peer review takes place only prior to funding without input or ongoing evaluation from later stage experts. History shows that expert program management and ongoing critical review are necessary. Maintaining a blind eye toward our therapeutic goals guarantees we will never reach them. 

We are not alone. BBDF has brought together, under a single cohesive strategy, Batten, adult neurodegenerative, rare and pediatric disease specialists from each stage of drug discovery and every sector.

Q: What do you consider BBDF's greatest accomplishments to date?

  • Initiation of a rare disease genetic test with the National Center for Genome Resources and developed at Children's Mercy Kansas City, capable of identifying carriers and affected children with over 800 rare diseases; the largest single panel diagnostic tool available. Time magazine calls the development of the rapid genome sequencing test one of the top 10 medical breakthroughs of 2012. In partnership with over 20 foundation partners around the globe, BBDF has filled more gaps in fundamental discovery, target validation and preclinical development in juvenile Batten disease than the National Institutes of Health (NIH) during the same time period.
  • BBDF funding has resulted in 6 new animal models of disease, validation of another, and the first antibody with dual specificity.
  • Sharing our planning and review strategies with other family foundations has empowered our community to raise the bar on the quality of research funded and to consolidate funds resulting in higher publication rates in top tier journals and invited presentations at key conferences.
  • BBDF has identified and invested in the development of the first primary disease target in juvenile Batten disease, also resulting in the largest grant awarded in juvenile Batten disease research history.
  • BBDF funding has led to the identification of 6 compounds with the potential to treat juvenile Batten and other lysosomal storage and neurodegenerative diseases.
  • Research activity, supported by BBDF, has led to $25 million in additional funding from the Pharmaceutical Industry.

Q: What are your top research goals over the next year and what will it take to reach those goals?
We have lofty goals. We are 1) preparing for clinical trial success by creating human platforms for drug discovery, 2) expanding an international patient registry, 3) developing a data dictionary to standardize research information across laboratories and clinics in the US and Europe, and 4) are identifying biomarkers capable of measuring disease progression and treatment effects. To finance these activities and 5) the continued development of six promising compounds, we have created a fundraising plan, and venture philanthropy effort designed to raise an additional $20 million by 2020. 

This next year will focus most heavily on managing 28 existing programs and launching ten more, further development of the multidisciplinary body, and reaching the first go/no go decision points for 6 promising compounds.