2025 Rally for Research Series: UCLA Scientists Awarded Pilot Grant

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The APBDRF awarded the first of our 2025 Rally for Research pilot grants to UCLA scientists Drs. Gal Bitan and Brent Fogel for their research titled, “New 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.

n-Lorem Foundation Receives FDA Authorization to Proceed with n-of-1 Trials for ASO Therapy

The FDA has given the n-Lorem Foundation the go-ahead for personalized "n-of-1" trials of an antisense oligonucleotide (ASO) therapy that targets the deep intronic mutation causing APBD. This means that the physician-researchers involved in these trials can now proceed with getting institutional approval for launching the studies in qualifying APBD patients. 

While these trials are restricted to a subset of patients, the clinical experience will inform future APBD trials by improving our understanding of biomarkers that measure symptom improvement.

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

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A study led by Dr. Mari Mori at Emory University, published in Molecular Genetics and Metabolism, 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 of GSD IV, ranging from severe liver disease in infants to adult-onset neurological disease known as APBD.

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.

Growing Our GSD IV BioBank

In Recognition of the Caregivers in Our Community

February 20th marked National Caregivers Day, a moment to pause and recognize the extraordinary role caregivers play in our community. 

For families living with APBD and other forms of GSD IV, caregivers -- whether a family member or a professional aide -- are the steady presence through uncertainty. They wear many hats as advocates, organizers, listeners, and helpers. Caregiving can mean adapting constantly, shouldering emotional and physical demands, and holding space for hope even on the hardest days. 

In honor of National Caregivers Day, we invite you to read Bruce Rosky’s reflection on caregiving, resilience, and love.

Join the Global Rare Disease Day Activities!

Feb. 28 is Rare Disease Day, a global movement to raise public awareness of 10,000+ rare diseases. Be sure to check out these “Rare Disease Day” events (with virtual livestream options) that are on our radar:

Broad Institute of MIT and Harvard

Feb. 25 | 1:30-5pm | Register here

Johns Hopkins - Kennedy Krieger Institute

Feb. 27 | 9am-4:30pm ET | Register here

Robert Schrier, an advocate from our community, will be putting a spotlight on APBD at this event.

National Institutes of Health

Feb. 27 | 9am-5pm ET | Register here

Upcoming Events

The Foundation hosts talks, workshops, and scientific meetings for patients, caregivers, health professionals, and researchers. These programs connect our community members and deepen the understanding of how APBD impacts lives.

Patient Chat

Feb. 25, 2026 | 9am PT | 12pm ET 

Topic: Why It's Important That You Participate in the GSD IV Biobank

Guest Speaker: Lindsay Gill, PhD | APBDRF - Research Manager

The hour will also include open mic time to discuss your discoveries, questions, and other thoughts.

This Chat is hosted by volunteer moderator Harriet Saxe. To learn more or register for this event, email Harriet at harriet@apbdrf.org.

Caregiver / Family Chat

Mar. 12, 2026 | 9:30am PT | 12:30pm ET

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

Ways to Support the Foundation All Year Long

There are many ways to support the Foundation throughout the year. Every gift helps advance research, support patients and families impacted, and move us closer to treatments for APBD.

Learn more about these options by visiting apbdrf.org.

We provide this FREE monthly newsletter resource to all of our GSD IV and allied disease community members. This resource is made possible by contributions to the APBD Research Foundation from donors like you. Thank You!