August 2022 Newsletter

An APBD Research Funding Opportunity Through UPenn’s MDBR Program

The APBD Research Foundation in conjunction with the University of Pennsylvania has launched a call for APBD research proposals. This Request For Applications (RFA) is made on behalf of the University of Pennsylvania’s Orphan Disease Center (ODC). Funds were raised by the APBD community during the 2022 Million Dollar Bike Ride for rare disease research. A single grant of $99,354 or two grants of $49,677 will be awarded, depending upon the merits of the applications received.

The primary focus for this grant opportunity is the identification of a biomarker that could be used to demonstrate effectiveness of a therapeutic for APBD. Investigations related to the development of approaches that will prevent polyglucosan body accumulation or facilitate its removal from the central and peripheral nervous systems will also be considered.

Please submit a proposal for the total amount of $99,354. The ODC may choose to fund two awards at $49,677 each, at which point they will request a revised work plan and budget. Your one-page Letter of Interest is due no later than Sept. 16, 2022, 8pm ET. For more details about how to submit your Letter of Interest and the application process, visit the Orphan Disease Center’s website. 

A Patient's Story: Jeff

“It’s been working on me for 20 years,” says Jeff, an APBD patient who was fully employed and physically active despite increasingly troublesome symptoms. He was a runner, too. But then he began noticing that he was getting up from bed every hour of the night to go to the bathroom. “I thought it was from all the hydrating that I did when I was running.” About six years ago, however, a significant event occurred. Then at age 60, Jeff fell while in the shower and wasn’t able to get up. He found himself in a local hospital where the staff was unable to determine what had happened to him.

That began a journey which next led to the University of Michigan Hospital and then, ultimately, to Dr. Joseph Matsumoto, Professor Emeritus, Department of Neurology at the Mayo Clinic in Rochester, Minnesota."

To read more of Jeff's story...

Research Highlight: Amyotrophic Lateral Sclerosis Mimics

A monograph published by Dr. Justin Kwan (NINDS) and Dr. Mithila Vullaganti (Tufts University School of Medicine) in the AANEM's scientific journal, Muscle & Nerve, takes a deep dive into the many mimics for Amyotrophic Lateral Sclerosis (ALS). This is crucial for our community because APBD is frequently under-recognized and often misdiagnosed. For so many of us, the accurate APBD diagnosis was preceded by misdiagnoses of neuropathy, Charcot-Marie-Tooth disease, multiple sclerosis, and ALS. This publication sheds light on APBD and a myriad of other diseases that mimic ALS while also highlighting the devastating implications of a misdiagnosis. 


Editor's Note: Research Highlight is an ongoing feature in our newsletter. It is focused on scientific publications of interest to our community. Our thanks to Bob Dorsky (a member of our Pharmaceutical Development Committee) for contributing to this feature. We appreciate the AANEM for providing continuing medical education to physicians.

Upcoming Events

From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals which connect our community members and deepen the understanding of how APBD impacts lives. 

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

September 8, 2022,  7:30pm ET | 4:30pm PT

October 13, 2022, 7:30pm ET | 4:30pm PT

This Chat is hosted by volunteer moderator, Linda Cedarbaum. To learn more and register for this event, email Linda at

Patient Chat

September 28, 2022,  8pm ET | 5pm PT

October 26, 2022, 8pm ET | 5pm PT

This Chat is hosted by volunteer moderator, Harriet Saxe. To learn more and register for this event, email Harriet at

We welcome new participants!

What We're Working On

We are excited to announce the newest addition to our website! We hope this infographic will help you better visualize APBD treatments in the pipeline. 

Click on the graphic to view the webpage!

Did You Know?

The APBD Research Foundation has a monthly giving program!  If you are like us, you love tools that make life easier. Did you know you can sign up to make monthly donations? No more having to remember to mail a check or go online. It's automatic! 

Thank you in advance for your monthly gift and for making a difference in the lives of people living with APBD.

We hope you find this newsletter informative. If you know someone who would benefit from receiving our monthly newsletter, please ask them to join us by signing up HERE.

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