November 11, 2026
This fall was filled with many opportunities for the APBD Research Foundation staff to represent our community at several in person and virtual meetings and conferences. Progress for GSD IV, including early-onset and adult-onset APBD, depends on strong voices and strong partnerships. Through advocacy and collaboration, we’re helping drive research forward and bring new treatments closer to patients and families.
n-Lorem Foundation Nano-rare Patient Colloquium
October 7-8, 2026
The n-Lorem Foundation is dedicated to bringing treatments to nano-rare patients using their antisense oligonucleotide (ASO) technology. At the 4th Annual Patient Colloquium last month, the n-Lorem Foundation shared updates on their programs, delved into discussions regarding patient outcomes from treatment, and provided a forward look into their future plans for patient treatment and access. Additionally, platform discussions focused on safety and adverse events, long-term benefits of treatment, patient stories, and expanding access to their existing therapies.
Earlier this year, the n-Lorem Foundation received FDA authorization for three n-of-1 trials using an antisense oligonucleotide (ASO) therapy developed for the deep intronic mutation in GBE1. With these three studies beginning and additional patients in our community being eligible for this particular treatment, the APBDRF stays connected with the n-Lorem Foundation to understand how they are working to expand access to additional patients and enhance financial support for the delivery of their ASOs.
Chelsea’s Hope 2026 Lafora Science Symposium
October 19-21, 2026
In late October, the Chelsea’s Hope Lafora Children Research Fund held its annual Science Symposium featuring researchers and clinicians from the Lafora Disease and APBD communities. Both Lafora Disease and APBD result in the accumulation of polyglucosan bodies (referred to as Lafora bodies in Lafora Disease) in the nervous system, highlighting the similarities and possibility of beneficial co-learnings across these diseases.
Terry Pirovolakis, Founder and CEO of Elpida Therapeutics, provided updates on the GYS1- targeting ASO, ION283, that was recently licensed from Ionis Pharmaceuticals. ION283 is currently in a clinical trial for the treatment of Lafora Disease, and the APBDRF recently funded further research by Dr. Mayank Verma to determine if ION283 could be beneficial for APBD patients.
Other conference presenters included APBDRF SMAB Co-Chair, Dr. Felix Nitschke (UT-Southwestern), as well as past and current APBDRF pilot research grantees Dr. Berge Minassian (UT-Southwestern), Dr. Mayank Verma (UT-Southwestern), Dr. Matthew Gentry (University of Florida), and Dr. Nirbhay Yadav (Johns Hopikins/Kennedy Krieger Institute).
NORD’s Rare Disease and Orphan Therapeutics Breakthrough Summit
October 25-27, 2026
APBDRF Research Director, Lindsay Gill, PhD, travelled to Washington, DC in late October to attend the National Organization for Rare Disorders (NORD) annual meeting. With the completion of the Clinical Trial Readiness Survey, Dr. Gill had the opportunity to present preliminary findings from the study as both a scientific poster and as one of five presenters selected to participate in the “Poster Presentation Lightning Round” on the first day of the conference. The Foundation is deeply grateful to have had the opportunity to present the findings from the Clinical Trial Readiness Survey to the over 1,000 conference attendees. We also appreciate the overwhelming support from our community in completing the study with 74 respondents!
The Summit also featured presentations from key regulatory leaders from the FDA and discussions regarding the FDA’s proposals to address the therapeutic development challenges that face rare and ultra-rare disease.
Read the Clinical Trial Readiness Survey poster
COMBINEDBrain Annual Summit
November 1-3, 2026
One week following the NORD Breakthrough Summit, our APBDRF Research Director was on the road again to attend the COMBINEDBrain Summit in Nashville, TN. Dr. Gill had another opportunity to spread the word about the Foundation’s Clinical Trial Readiness Survey by sharing her poster presentation with a new audience.
This year’s Annual Summit featured a Drug Repurposing Bootcamp on Day 1. The bootcamp brought together patient advocates, researchers, clinicians, and industry partners to discuss the successes and challenges of identifying existing, approved drugs that might be beneficial for a rare disease. Earlier this year, the Foundation began collecting samples for a drug repurposing with research partners, COMBINEDBrain and Unravel Biosciences. At the conference, Dr. Gill joined a breakout session with other patient advocacy leaders and industry partners to learn how to evaluate drug repurposing lists and take them to the next step.
