APBD Research Foundation

03/13/2026

Have You Considered Becoming a Monthly Donor?

Setting up a monthly donation is quick and easy! Whether it’s $10, $50, or $100, every contribution makes a difference. Choose a giving level that works for you and supports our mission throughout the year.

Learn more at https://loom.ly/TbXw9Vk

Your decision to give a monthly gift can have a powerful impact on the lives affected by APBD. With your support, we can continue to fund essential research and provide crucial resources to patients and families in need.

If you have any questions, feel free to reach out to Anesa at anesa@apbdrf.org.

Together, we can accomplish so much more!

03/11/2026

🚨 Major Milestone for APBD Research:

The n-Lorem Foundation has received FDA authorization to move forward with personalized “n-of-1” clinical trials for an antisense oligonucleotide (A*O) therapy targeting the deep intronic mutation that causes APBD.

This means physician-researchers can now seek final institutional approval to begin n-of-1 studies in qualifying patients. While these studies are restricted to a subset of patients, they will inform future APBD trials by improving our understanding of biomarkers that measure symptom improvement.

This is meaningful progress for our community!

Read more: https://loom.ly/9m1_iuk
*Otherapy N-Lorem Foundation

03/09/2026

🔬 Research Highlight: New Study Confirms that APBD is Part of the GSD IV Continuum Encompassing Children and Adults

A new study, led by Dr. Mari Mori at Emory University,helps clarify how different forms of Glycogen Storage Disease IV (GSD IV) are connected. By reviewing published patient cases, the researchers showed substantial overlap in the GBE1 mutations causing the different forms, including early-onset (or Andersen Disease) and adult-onset (or APBD), of GSD IV.

These findings encourage patients, families, and researchers to collaborate across different ages and diagnoses to help speed progress toward treatments. The APBDRF is working to bridge the APBD and early-onset GSD IV communities towards this goal.

Read more: https://loom.ly/R6uOEYc

Association for Glycogen Storage Disease
Glykogenose Deutschland e.V. SAGSD - Scandinavian Association for Glycogen Storage Disease Association Francophone des Glycogénoses AIGlico - Associazione Italiana Glicogenosi Glucogenosis

03/06/2026

Join our monthly Patient Chats and Caregiver/Family Chats, held throughout the year, to find support, share resources, and connect with others who understand. These conversations bring our community together and deepen understanding of how APBD impacts daily life because no one should navigate this journey alone.

Mark your calendars for March!

Caregiver/Family Chat
March 12, 2026 — 9:30am PT | 12:30pm ET
Hosted by volunteer moderator Linda Cedarbaum
To learn more or register, email: linda@apbdrf.org

Patient Chat
March 25, 2026 — 9am PT | Noon ET
Hosted by volunteer moderator Harriet Saxe
To learn more or register email: harriet@apbdrf.org

We look forward to seeing you there!

03/05/2026

First Grant Announcement of Our “2025 Rally for Research” Series

We’re excited to share that UCLA scientists Gal Bitan, PhD and Brent Fogel, MD, PhD are the recipients of the first of our 2025 Rally for Research pilot grants to support the discovery of biomarkers for APBD.

The researchers aim to identify blood-based biomarkers that point to changes in the brain. It's crucial to identify biomarkers because they can be used to improve diagnosis, capture disease progression, and determine the effectiveness of drugs that are administered to patients.

This is real progress powered by our patient community’s commitment to advancing research!

Read more here: https://loom.ly/CisKQho

UCLA

03/03/2026

IN CASE YOU MISSED IT! Here's our February newsletter: https://loom.ly/56438Hc

Check out what’s inside:
- First 2025 Rally for Research grant awarded to UCLA researchers
- FDA authorizes n-of-1 trials for A*O therapy that targets a specific APBD mutation
- Growing the GSD IV BioBank
- Recognizing our caregivers
- New research supports view of a GSD IV continuum encompassing children and adults
- Upcoming Rare Disease Day events
- Upcoming Chats for patients and caregivers
- Ways to support the Foundation all year long
*Otherapy

N-Lorem Foundation

03/02/2026

DID YOU KNOW? 34,000 people worldwide could have GBE1-related diseases.

Researchers at the Rare Genomes Project of the Broad Institute of MIT and Harvard have updated the global genetic prevalence estimate of people affected by diseases resulting from changes on the GBE1 gene, including APBD and early-onset Glycogen Storage Disease Type IV. The number has changed from 1 in 325,000 people (reported in 2022) to 1 in 236,000.

Read the preprint here: https://loom.ly/RAikmJ8

02/28/2026

PLEASE SHARE this post and help us raise awareness for APBD and other rare diseases. With over 300 million people living with a rare disease globally, the chances are you -- we all -- know someone with a rare disease!

02/27/2026

PLEASE SHARE & HELP RAISE AWARENESS!

is just around the corner. Rare diseases are individually rare -- but collectively common.

02/25/2026

Just 3 days left until . Join us in raising awareness and supporting our community. 💙

🧬 People living with a rare disease often wait years for answers, facing limited research, slow progress, and therapies that remain out of reach.

Breakthroughs in genetics hold enormous promise, but we must ensure that innovation translates into equitable access, so progress benefits everyone, not just those in certain countries or health systems.

⚖️ Equality means giving everyone the same.
💜 Equity in rare diseases means every person, no matter their condition or country, deserves the same chance to benefit from a treatment for their condition.

👉 Learn more about equity: https://go.rarediseaseday.org/equity

02/25/2026

🎉 Using milestones to celebrate life and support your #1 cause

Milestones such as birthdays, weddings, anniversaries, bar/bat mitzvahs, and memorials, or building your own event, are all meaningful opportunities to honor loved ones while advancing APBD research. Every contribution makes a difference and is tax-deductible. 💙

In this photo, last year, community member Robin Knoll hosted a Pampered Chef fundraiser with her friend Jill Lerner. Together, they raised $1,200 to support APBD Research Foundation’s mission!

02/24/2026

Join us for our Patient Chat tomorrow! 💛

Have you registered yet? Don’t miss this important conversation about advancing APBD research and why participation in the GSD IV Biobank matters.

Email Harriet at harriet@apbdrf.org to receive the Zoom link and join us.

Be part of the research shaping the future of APBD.

Next week on Wednesday, February 25 at 9am PT / 12pm ET, join a special Patient Chat with Lindsay Gill, PhD, Research Manager at the APBD Research Foundation, to learn why participating in the GSD IV Biobank is so critical to advancing research.

📩 Email Harriet at harriet@apbdrf.org to learn more or register.