News Releases
The APBD Research Foundation is pleased to announce the second of our 2025 Rally for Research Pilot Grant Program grant recipients: Mayank Verma, MD, PhD at UTSW Medical Center. His research project is entitled Preclinical Validation and Biomarkers in APBD of a GYS1-ASO Currently in Phase 1 Clinical Trial for Lafora Disease
On behalf of the APBD community, the APBD Research Foundation has responded to the US Food and Drug Administration's (FDA) request for public comments for its recently released draft guidance for the use of the Plausible Mechanism Framework for individualized genetic therapies.
We are excited to launch the 2026 APBD Tour de Friends Rally for Research Fundraising Campaign to raise $150,000.
The APBD Research Foundation is excited to announce an opportunity for you to play a direct role in advancing treatment research. You do not have to leave home to participate.
The APBD Research Foundation is delighted to announce the appointment of Carol Rosenstock to its Board of Directors.
The APBD Research Foundation is excited to partner with COMBINEDBrain on the development of a “Disease Concept Model” for APBD and other neuromuscular forms of GSD IV.
The APBD Research Foundation is pleased to announce the first of our 2025 Rally for Research Pilot Grant Program grant recipients: Gal Bitan, PhD and Brent Fogel, MD, PhD.
The APBD Research Foundation is excited to share with our community that the n-Lorem Foundation has received FDA approval to proceed with n-of-1 clinical trials for their treatment targeting the APBD deep intronic mutation.
The APBD Research Foundation is excited to announce its 2026 goal of recruiting 30 participants to its GSD IV BioBank!
New York, NY – The APBD Research Foundation shares with sadness the passing of former Board Member and Director Emeritus David Epstein on January 3, 2026.
The estimated global genetic prevalence of GBE1-related diseases — APBD and early-onset forms of Glycogen Storage Disease Type IV included — has been updated from 1 in 325,000 (reported in 2022) to 1/236,000. This updated estimate suggests that up to 34,000 people worldwide could be affected.
The APBD Research Foundation is excited to share that Matthew Gentry, PhD -- a member of our Scientific and Medical Advisory Board -- -- has been selected as 1 of 10 recipients of the Oxford-Harrington Rare Disease Centre’s 2025 Rare Disease Scholar Awards.
The APBD Research Foundation is excited to announce the launch of the GSD IV BioBank in partnership with COMBINEDBrain.
As the APBD Research Foundation and our research community embark on new and continued research studies to find cures for and advance our understanding of APBD, we strongly encourage our patient community to create a Clinical Research ID (CRID).
Nano-rare disease advocates, clinicians, researchers, and industry collaborators gathered in Cambridge (MA) earlier this month for the n-Lorem Foundation’s 2025 Nano-rare Patient Colloquium.
Over 900 rare disease advocates, clinicians, researchers, industry partners, and other leaders gathered earlier this month in Washington, DC for the National Organization for Rare Disease’s (NORD) 2025 Breakthrough Summit.
The National Organization for Rare Disorders (NORD) is launching the Living Rare Study, and we need you and everyone in the GSD IV community to participate.
Carol Rosenstock recently opened up about her journey from being diagnosed with MS to receiving an APBD diagnosis in the Jewish Standard.
There are many challenges for small, scattered rare disease communities like ours. To address some of those challenges, the APBD Research Foundation recently became a member of the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain).
New York, NY – The APBD Research Foundation shares with deep regret the passing of our co-founder Michael Weiss on September 6, 2025 from the consequences of APBD.
The 2025 APBD Tour de Friends Rally for Research team raised a record-breaking $178,404 with the support of 287 donors. This achievement was made possible by our Board of Directors’ $50,000 match and Dr. Ora Gordon’s $36,000 match. We also acknowledge our peer-to-peer fundraising team leaders: Kathy Arky, Melanie Robinson, Faye Rosenberg, Alan Rosenthal and Robin Knoll, Carol Rosenstock, and Sharon Young.
We’re excited to share that Golden Heart Flower, Ltd. (GHF) has just launched a Phase I clinical trial in Europe to study GHF-201 in adult healthy volunteers.
The APBD Research Foundation is delighted to welcome Lindsay Gill, Ph.D. as Research Manager. Dr. Gill joins us following a ten-year career as a neuroscientist and neurotoxicologist with the National Institute for Occupational Safety and Health, a branch of the U.S. Centers for Disease Control and Prevention.
We are excited to announce that Amber Robertson’s powerful story about her daughter Mia’s GSD IV diagnosis has been published on KevinMD.com.
We are excited to share that a powerful narrative from Jeff Cooper, who was diagnosed with APBD in 2018 after several years of an MS misdiagnosis, has been published on KevinMD.com.
In the May 2025 newsletter, we highlight two powerful examples of momentum in research and advocacy.
Due to the increased availability of genetic testing, including carrier screening, several members of our community have received a genetic, but presymptomatic, diagnosis of APBD.
We’re honored to feature a Q&A with Dr. Amy Williford, Executive Director of Communications and Donor Relations at the n-Lorem Foundation.
We’re excited to share that the APBD Research Foundation is now a proud member of the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain).
We recently wrapped up a powerful collaboration with Costello Medical — through the Pro Bono Call for Rare Disease Organizations — that supported the development of critical tools needed to unite the APBD and the broader GSD IV community.
On March 20, 2025, we hosted an APBD Biomarker Workshop that brought together over 20 APBD researchers and clinicians to address one of the most urgent challenges in developing effective treatments: identifying reliable biomarkers.
We are excited to launch the 2025 APBD Tour de Friends Rally for Research Fundraising Campaign to raise $150,000.
The APBD Research Foundation is delighted to announce the appointment of Dr. Lawrence (Larry) Arky to its Board of Directors.
The APBD Research Foundation is excited to partner with UK-based Alex The Leukodystrophy Charity (Alex TLC) and Association for Glycogen Storage Disease – UK (AGSD-UK) on a special APBD Patient Chat that aims to engage the global community.
The APBD Research Foundation rallied its community to mark Rare Disease Day on February 28, joining the National Organization for Rare Disorders and rare disease advocates around the world.
We are excited to share the recently released Chan Zuckerberg Initiative (CZI) Rare As One Impact Report. The report highlights the accomplishments of our Foundation and 29 other Cycle One rare disease organizations over a three-year grant period that ended in 2022.
We are excited to share that Melanie Robinson’s narrative on caregiving for her mother, Ginny, who was diagnosed with APBD in 2018, has been published on KevinMD.com.
The APBD Research Foundation is pleased to share that Felix Nitschke, PhD (University of Texas Southwestern Medical Center) and Wyatt Yue, PhD (Newcastle University) are the recipients of rare disease research grants from the University of Pennsylvania’s Million Dollar Bike Ride (MDBR) program.
As an OB/GYN for the past 22 years, I have loved delivering babies, performing surgeries, and having long-term relationships with my patients. Now, I am on the other side of things, as a patient myself. I was diagnosed with adult polyglucosan body disease (APBD) in April of 2023 at the age of 59.
The APBD Research Foundation recently participated in the FDA’s Listening Session on “Patient and Care Partner Perspectives on Early Enrollment into Gene Therapy Clinical Trials for Rare Diseases.”
On the heels of our recent APBD Scientific & Community Conference, the Foundation team represented our community in person and virtually at key stakeholder convenings across the country. At the cornerstone of our work is the belief in advocacy and collaboration. We believe that through these efforts, we can advance APBD research and drug development.
On September 18-19, over 200 attendees joined the 2024 APBD Scientific & Community Conference. The virtual event brought together stakeholders in the APBD community – researchers, health care providers, industry partners, and individuals and family members impacted by APBD.
The APBD Research Foundation is excited to announce a new collaboration with Costello Medical, Inc., following the Foundation’s successful application to Costello Medical’s pro bono project initiative for Rare Disease organizations.
The APBD Research Foundation is delighted to introduce our newest team member, Becca Reef, MS, who has joined us as our part-time Science Coordinator.
The APBD Research Foundation, in partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania, is pleased to announce the launch of the 2024 Million Dollar Bike Ride (MDBR) Pilot Grant Program.
We are excited to share that we are hosting our virtual APBD Scientific and Community Conference on September 18-19, 2024.
On June 8th, our APBD Tour de Friends team gathered on the ground in Philadelphia, biking, walking, and scootering, while over 271 virtual participants and donors joined in support from across the country. Our community set a new fundraising record this year, reaching $134,742.
On May 6, 2024, the APBD Research Foundation hosted a virtual Focus Group that brought together, for the first time, over 50 participants representing the Adult Polyglucosan Body Disease (APBD) and Glycogen Storage Disease Type IV (GSD IV) communities.
We are excited to share that Sarah William’s APBD journey is featured in the newly published book, Kaleidoscope: Rare Disease Stories, by Kerry Wong.
The APBD community joined the National Organization for Rare Disorders and rare disease communities around the world to celebrate Rare Disease Day on February 29th.
The APBD Research Foundation is pleased to share that Or Kakhlon, PhD and Priya Kishnani, MD, MBBS and Rebecca Koch, PhD, RDN, LDN are the recipients of rare disease research grants from the University of Pennsylvania’s Million Dollar Bike Ride program.
Golden Heart Flower, Ltd. announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation for the company’s product GHF-201 to treat glycogen storage disease type IV, including APBD.
The APBD Foundation is excited to announce key additions to its Scientific and Advisory Board (SMAB).
The APBD Research Foundation is delighted to introduce our newest team member, Anesa Kajtazovic, who has joined us as our part-time Community Affairs Officer.
The APBD Research Foundation is excited to contribute to the Glycogen Storage Disease (GSD) Value Project. This initiative will develop an internationally applicable set of patient-centered health outcomes that are relevant to individuals with liver glycogen storage diseases and other GSD subtypes.
The APBD Research Foundation in partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the 2023 Million Dollar Bike Ride Pilot Grant Program.
The APBD Research Foundation is delighted to announce the appointment of Michael Canmann to its Board of Directors.
We are thrilled to announce that the APBD Research Foundation has partnered with Probably Genetic to increase access to genetic testing within our community.
We had our largest group yet: 290 eager and imaginative riders, walkers, and donors on the APBD Tour de Friends team participated in the 2023 Million Dollar Bike Ride (MDBR) on June 10.
The APBD Research Foundation is delighted to announce that Paul Ashley has joined the Board of Directors.
We are excited to share the APBD Research Foundation’s 2023-2025 Strategic Plan.
The APBD Research Foundation is delighted to announce that Art Glassman and Beth Katz have joined the Board of Directors.
The APBD Research Foundation is pleased to share that Matthew Gentry, PhD (University of Florida) and Berge Minassian, MD and Mayank Verma MD, PhD (UT Southwestern Medical Center) are the recipients of rare disease research grants from the University of Pennsylvania’s Million Dollar Bike Ride (MDBR) program.
We’re excited about joining the National Organization for Rare Disorders and the broader rare disease community around the world once again in celebrating Rare Disease Day.
On behalf of the Board of Directors, we are delighted to announce Natacha Pires as the APBD Research Foundation’s first executive director.
The APBD Research Foundation and the Association for Glycogen Storage Disease (AGSD) are excited to announce the publication of “Diagnosis and Management of Glycogen Storage Disease Type IV, Including Adult Polyglucosan Body Disease: A Clinical Practice Resource” in the scientific journal, Molecular Genetics and Metabolism.
We are excited to share that Bruce Rosky’s narrative on caregiving for his wife and hero, Jennifer, who was diagnosed with APBD in 2016, was published on KevinMD.com.