September 2021 Newsletter

What’s in a name? Adult Polyglucosan Body Disease is quite a mouthful. Even the initials – APBD – are a challenge because of their rhyming nature. 

But name recognition and symptom recognition are tremendously important for an ultra-rare disease like APBD. To those ends, earlier this month, our researchers shared their work at the Association for Glycogen Storage Disease's annual conference, and next month, we'll debut our new APBD informational ad at the Rare New England's annual conference.

Name recognition and appreciation for the burden of APBD will be the centerpiece of a special meeting we lined up for October with the US Food and Drug Administration. This is a first for our community, and we look forward to providing you with highlights from this groundbreaking event. Stay tuned!

Your voice and your support have never been more important. Thank you for all you do to strengthen our community!

Natacha Pires
Special Projects Consultant
The APBD Research Foundation is excited to partner with the Association for Glycogen Storage Disease (AGSD) on the development of healthcare guidelines for APBD and related Type IV Glycogen Storage diseases.
This Guidelines initiative is spearheaded by Dr. Priya Kishnani, Chief of the Division of Medical Genetics and Professor of Pediatrics and Molecular Genetics / Microbiology at Duke University and chair of the AGSD's Scientific Advisory Board. The Guidelines are intended to serve as an educational resource for health professionals, resulting in more prompt and accurate diagnoses and optimized care for people impacted by APBD and related GSD IV diseases. Additionally, they will help identify gaps in scientific knowledge and offer recommendations for future research. Read more...
The APBD Research Foundation is 1 of 115 patient organizations that signed on to the Speeding Therapy Access Today (STAT) Act of 2021. The Act was recently introduced in Congress as a bipartisan bill. Created by the EveryLife Foundation’s Community Congress, with input from the rare disease community, the STAT Act seeks to improve the development of and access to therapies for the rare disease community.

Last spring, Foundation co-president, Jeff Levenson, joined over 670 rare disease advocates in meetings with federal legislators during the Rare Across America campaign. This ongoing advocacy is an important part of the Foundation's work to ensure your voice is heard by legislators and to propel development of much-needed therapies and a cure. Read more...
Two recent publications in the Journal of Clinical Investigation and the American Journal of Human Genetics describe a complex, multisystem disease in children. The disease is caused by mutations in a gene called C2orf69. The researchers show that mutations in C2orf69 affect the mitochondria (the part of a cell that is responsible for energy production). Interestingly, the researchers also show that individuals with this mutation have reduced glycogen branching enzyme (GBE1) activity and accumulation of polyglucosan bodies in several tissues, both of which are characteristic of APBD.

It is unclear why mutations in C2orf69 lead to reduced GBE1 activity and polyglucosan bodies. This research reveals a potential new molecular pathway affecting GBE1 activity. In the context of APBD, understanding the factors that affect GBE1 activity are important for understanding the disease and possible therapeutic approaches. 

This research also identifies yet another "allied" disease characterized by the accumulation of polyglucosan bodies. We've seen time and again how breakthroughs in one disease often enable progress for other allied diseases. We're keeping an eye on C2orf69-related research! Read more...
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
Oct. 14, 2021, 7:30pm ET | 4:30pm PT

Patient Chat
Oct. 20, 2021, 8pm ET | 5pm PT

APBD Biomarker Symposium
Nov. 18, 2021

 To learn more about these events and to participate, email us at
Did you know that you can help support the APBD Research Foundation's mission through AmazonSmile, at no cost to you? When you shop at, you’ll find the same shopping experience as, with the added bonus that the AmazonSmile Foundation will donate 0.5% of the purchase price to support your #1 cause, the APBD Research Foundation.

Below are some simple instructions:
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