November 2021 Newsletter
APBD Researchers Share Their Work at the AGSD Annual Conference
APBD research was a topic of discussion at the Association for Glycogen Storage Disease's Annual Conference this past September. Orhan Akman, PhD (Columbia University) gave an informative presentation on antisense oligonucleotide (ASO) as a novel therapeutic approach for APBD. Additionally, Wladimir Bocca Vieira de Rezende Pinto, MD, MSc (Federal University of São Paulo, Brazil) presented on the main clinical, biochemical, genetic, and diagnostic aspects of APBD with special focus on its neuromuscular presentations. Missed the Conference? Watch the presentations on our YouTube Channel...

Editor's Note: Our thanks to the Association for Glycogen Storage Disease for giving us access to these presentations and increasing the reach of these resources!
We're excited to share this ad that we developed for the Rare New England's (RNE) Annual Conference this past October. Raising the public profile and recognizing the hallmark symptoms of APBD is a crucial facet of our mission.

Participating in the RNE's Annual Conference enabled us to bring APBD into the limelight and support the organization's efforts to help New England patients, families, and providers touched by rare diseases. Click here to see the full-
A recent publication, “Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism,” describes a chemical compound, called 144DG11 (also known as "compound A"), that is showing promise as a potential treatment for APBD. This study was published in the journal EMBO Molecular Medicine and was led by researchers Or Kakhlon, PhD and Miguel Weil, PhD from Hadassah-Hebrew University Medical Center and Tel Aviv University, respectively. The study aimed to answer two questions: is 144DG11 an effective treatment in mice that model APBD, and how does 144DG11 work on a cellular level?

The researchers found that treatment of APBD mice with 144DG11 at an early stage of disease progression improved their lifespan and motor abilities. Treatment with 144DG11 also reduced polyglucosan bodies and glycogen build-up in the nervous system, heart, and liver. They also discovered that 144DG11 interacts with a part of the cell known as a lysosome and leads to increased breakdown of glycogen within lysosomes.

This study lays the groundwork for the continued preclinical development of 144DG11 as a treatment for APBD and other glycogen storage diseases. This research was supported by funds raised by the APBD community through two University of Pennsylvania Orphan Disease Center Million Dollar Bike Ride research grants.
Upcoming Events
From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals so as to to build community and collaboration.

These events offer peer support, opportunities to hear from health experts, and a chance to hear from Foundation leaders. Our upcoming events include:
 
Caregiver / Family Chat
Nov. 11, 2021, 7:30pm ET | 4:30pm PT

Patient Chat
Nov. 23, 2021, 8pm ET | 5pm PT

To learn more about these events and to participate, email us at info@apbdrf.org. 
Save the Date: GivingTuesday!
On November 30, people around the world will come together and create a wave of radical generosity for GivingTuesday. Created in 2012, GivingTuesday has become a global movement that inspires hundreds of millions of people to give, collaborate, and celebrate generosity. The result: real change and solutions in communities around the world!

Our goal this GivingTuesday is to engage each of you on our email list (and on our social media channels) in our 100% Participation Challenge starting on November 30. Your actions, whether connecting with a friend with APBD, raising awareness, volunteering, or making a gift...all of them count towards the Challenge.

Stay tuned for more information about how you can join the 100% Participation Challenge!