During these difficult times, people the world over are experiencing fear of the unknown, isolation and the illness and death of loved ones. We are all pained by what is taking place during the current public health crisis; certainly, the impact on those with a rare disease diagnosis and their families is particularly acute. I want to take this opportunity to assure you that the Adult Polyglucosan Body Disease Research Foundation is working harder than ever, and we are especially honored and excited to share updates about our recent biomarker conference, stories of the dedication and work of our exceptional research community members, and news of our awareness-building initiatives, one being our private Facebook Group page.
After a decade and a half of volunteering for the Foundation, I recently joined the Board and was elected as co-president of the Foundation. What a great honor. I look forward to serving the Foundation with Emil Weiss, the Foundation’s co-president.
Reflecting on the series of events that led to this moment, I recently found myself thinking about the day I met Gregory, Emil, and Michael Weiss. It was in 2005, in the office of Dr. Edwin Kolodny, then Chief of the Department of Neurology at New York University Medical Center. The Weiss brothers shared with me the fact that they had just launched the Research Foundation to help people like themselves who were struggling with APBD, and to find a cure. Finally, after 20 years of helplessly watching two of my family members endure the ravages of APBD, there was something positive I could do. When they invited me to join their life-changing work, I readily accepted.
Over the last 15 years, we have been truly fortunate as a small, volunteer-led organization to have made significant breakthroughs, including:
- Meaningful proof of concept studies in the US and Israel
- A diagnostic saliva test
- An enzyme assay blood test
- Acceptance into various preconception and general genetic screening panels
- Fibroblast (skin cell) biobank creation
- High throughput screening of compounds to slow APBD
- Two APBD patient registries
- Several animal models
- Four preclinical gene therapy projects in progress
Selection as a Rare as One partner by the Chan Zuckerberg Initiative
As an ultra-rare disease patient advocacy group that operates on a shoestring budget, it is extraordinary what we have accomplished – and that is thanks to you. But, as we are all keenly aware, there is so much more work to do, and we quite literally cannot succeed without you, our donors and patients.
To our donors: Please continue the support that led the Chan Zuckerberg Initiative to honor us with a $450,000 grant which is restricted to enhancing and expanding our international network of clinicians, researchers, and allied stakeholders. I should emphasize that we continue to need your help to cover our operating budget and to fund research, as you did with the Million Dollar Bike Ride fundraiser. A special thank you to Harriet Saxe, caregiver and Board member, who, year after year, working with a few dedicated part-time staff and volunteers, makes this event such a resounding success.
To our APBD patients: We need you, with the help of your caregivers, family members and/or friends, to join our registries. We are here to help you with the logistics of this task. Your involvement will help us design surveys so that your voice will be heard. Registries will tell our researchers what is important to you, while at the same time, start to track the natural history of APBD. The FDA has begun to accept properly designed natural history studies as clinical endpoints. Clinical endpoints are mandatory for drug approval. When pharmaceutical companies see that we have an active and engaged community, it is our hope that they will provide the millions of dollars necessary to develop the drugs that you need. We cannot do this without you.
Our Foundation’s other goals are many. We want to ally ourselves with expert care centers to help improve APBD patient care and collect high quality longitudinal data. We want to forge new research collaborations, engage and partner with organizations focused on allied diseases that share our goals, launch new educational outreach programs, and embrace new technologies to build our capacity for engaging with a larger community.
Over the next few months, we will expand upon the stories and initiatives that are mentioned above. We will tell you about new articles that address APBD, such as the prevalence article just published in a peer-reviewed journal. That article, by the way, was spearheaded over the course of two years by volunteer statistician Larry Schwartz (APBD caregiver) who brought together a collaboration of authors from four institutions. The article posits that there are 3400 to 6300 Ashkenazi Jews living with APBD in the US, and that it is possible that 2700 individuals diagnosed with MS actually have APBD. You can imagine the significance of this for APBD, which has only 200 individuals diagnosed worldwide.
In sum, Emil, I, the Foundation’s leadership, both volunteer and medical, and part-time staff look forward to hearing from you and working with you to bring help and hope to our community. Your voice and participation have never been more important!
Please stay safe.
Jeff Levenson, DDS