The Batten Disease Support, Research, & Advocacy (BDSRA) Foundation was represented at this year’s 18th International Congress on NCL in Hamburg, Germany by Head of Research & Medical Affairs Dr. Ineka Whiteman and President & CEO Amy Fenton Parker.
A group picture of attendees at the 18th International Congress on NCL in Hamburg, Germany.
In this Q&A, Dr. Whiteman and Parker break down what they learned and what it all means for the Batten community.
What makes the International Congress on NCL unique?
Amy: The NCL Congress is the only scientific conference organized by researchers around the world who focus on Batten disease. Watching three full days of research findings gives hope that work IS being done to find effective treatments in labs around the world. It brings everyone together, including clinicians and industry partners, to share thoughts, findings, and ideas for better quality of life, along with treatments and one day, we hope, cures.
Ineka: As Amy said, it is the only scientific meeting worldwide that focuses exclusively on Batten disease, and indeed, it’s a very comprehensive meeting with a full program held over five days. The program and social events are inclusive of all stakeholders — scientists, clinicians, biotech companies, patient advocacy groups, and families — which creates a unique space and opportunity for people to make those meaningful connections, exchange ideas, and discover new collaborations.
Provide 1-2 main takeaways from this conference.
Amy: This congress also included a day with other patient advocacy groups and was organized by Ineka and Dr. Frank Stehr, CEO of the German group NCL Stiftung. It was good to meet other family organizations and their different approaches to Batten. Many of the countries represented had a very low Batten patient population, with CLN3 and CLN2 being the most common forms represented across all groups. It reminded me of the vast population we serve and how very different our communities are with regard to need, healthcare approach, and the many services we provide. At the end of the conference, a “Marketplace” was held for various topics. Patient Advocacy Groups was a table I attended and met others who had not been in the first meeting.
Truly, the other biggest takeaway for me was the amount of research — exciting research — that holds promise for our families. Ineka will provide better details, but when a mother who sat beside me was moved to tears, I knew how impactful this conference was.
Pictured from left: Dr. Ineka Whiteman, BDFA (U.K) Head of Scientific Affairs Dr. Joanna Nightingale, and Amy Fenton Parker.
Ineka: There is much to be hopeful for — and at the same time, still much work to be done, but looking around the room in Hamburg, I felt reassured by the number of good humans and bright minds that are genuinely invested in Batten disease research –- at both ends of the research and development “pipeline”. At one end, we have the ‘nuts and bolts’ scientists making strides in understanding what the different NCL-associated genes and proteins are doing inside the cell. Remember — for the most part, we don’t yet have a thorough understanding of what all the “normal” functions of these proteins are within the cell, nor how all the different genetic mutations affect those functions. This information is critical in the development of effective, targeted disease-modifying therapies.
Toward the other end of the R&D pipeline, we are seeing the translation of scientific advances into patients in the clinic. We heard directly from the companies and/or investigators involved in all seven currently active clinical studies in Batten disease around the world and learned about several additional emerging therapies that we hope will follow close behind in the near future.
What new information did you learn and how can that information help benefit the Batten community?
Amy: I think meeting and learning about other organizations helped me to understand better other countries’ needs compared to our own. We had good conversations, and I am encouraged by their interest in working together for the good of all of our communities. I spoke of our interest in collaborative granting and many were eager to learn more about it and possibly invest in the idea.
Dr. David Pearce, a BDSRA Board Member, announced BDSRA’s Batten Center of Excellence program and upcoming research grants to be given by BDSRA in the coming year.
There were good posters at the congress too, one developed by Ineka, another by Dr. Erika Augustine, and several members of the University of Rochester Batten Center, which I think will help to educate clinicians about Batten disease. This will lead to better quality of care. I was proud that BDSRA could be a part of the information shared.
Ineka: Where to start?! I learned a great deal at the NCL Congress, much of it I am still digesting and “marinating”… and I’m excited to share some of these ideas in more detail in the coming weeks. Together with Prof. Jon Cooper, Dr. Dave Pearce, and our Australian research colleague Prof. Tony Cook, we are planning a special webinar to summarize the key updates and takeaways from Congress, where families and community members can come along, hear our summaries, and ask us any questions!
Based on the research presented, what is the current state of Batten and NCL research? What are some things families must know?
Amy: I really came away from the conference with renewed hope. The researchers are passionate about understanding Batten disease, how it works, how different and alike the NCLs are, and how they can approach treatments and cures in new ways. There have been great strides made with gene technologies like AAV, ASOs, and CRISPR.
Ineka: As mentioned above, I think the state of Batten disease research is healthy and strong — but there is more to do!
A practical and meaningful part families can play in advancing research and development is to consider taking part in a natural history study, and/or ensure they are on a patient register — the BDSRA Foundation’s Family Register is an excellent place to start!
The importance of natural history studies cannot be emphasized enough. We still have so much to learn about Batten disease as a condition — the different symptoms, when they start, how they progress, what makes the symptoms better or worse, etc. In the development of new treatments and improving standards of care for Batten disease, having a good understanding of all these things is critical.
Pictured from left: Dr. Ineka Whiteman, Dr. Tom Wishart, a 2019 BDSRA rsearch grant recipient in partnership with Haley’s Heroes, and Amy Fenton Parker.
To all our families — whether you are currently caring for a child or are a bereaved parent/caregiver — please reach out to us to find out more about these studies and how you can help.
What was the main theme of your conversations with fellow attendees?
Amy: For me, the main theme of my conversations was understanding. I was learning about and understanding the science being presented. I was listening to and learning from the families I encountered who were from around the globe, including the U.S. I spent quality time listening to and learning from the clinicians I got to speak with, too. The ability to be together with all the Batten groups — families, researchers, clinicians, and industry partners — in one place for nearly a week was so beneficial in understanding how to better serve our families, along with all the others in our community.
Ineka: Collaboration! Many conversations I had were around the need for good collaborations and the sharing of knowledge and resources as well as brainstorming ways to make it happen!
