2025 Global Leukodystrophy Initiative Scientific Meeting and Advocacy Workshop
Thursday, February 27 through Saturday, March 1
The Global Leukodystrophy Initiative (GLIA) is thrilled to welcome you to the 2025 Scientific Meeting and Advocacy Workshop. The event is intended to bring together a diverse group of clinical, scientific, advocacy, and industry stakeholders in a forum designed to showcase recent clinical and research advances across the leukodystrophies and identify opportunities for meaningful new interdisciplinary partnerships to address persistent challenges in the diagnosis, care, and treatment of affected individuals.
The two-day scientific meeting on Thursday, February 27 and Friday, February 28 serves as an opportunity for leukodystrophy clinicians, researchers, advocacy leaders, regulatory officials, and industry partners from around the world to gather and learn from one another. We are excited to unveil a new format for this iteration of the event, with traditional disease-specific updates anchored by broader concept sessions highlighting current topics in newborn screening, therapeutic development, diversity and access, and advocacy engagement. All sessions will be live-streamed and recorded for those unable to attend the meeting in person.
The advocacy workshop on Saturday, March 1 is reserved primarily for patient advocacy leaders, though industry representatives will be invited to attend select portions of the workshop to foster engagement. With over a dozen new patient advocacy organizations represented since this workshop was last hosted in October 2022, we hope to provide an unbiased forum for constructive discussion between leaders. In the spirit of promoting a highly interactive format, the workshop will not be live-streamed or recorded.
Meeting Location (2025 GLIA Scientific Meeting)
Main Auditorium, First Floor • Hub for Clinical Collaboration Children’s Hospital of Philadelphia • 3501 Civic Center Blvd. • Philadelphia, PA 19104
Meeting Location (2025 GLIA Advocacy Workshop)
Conference Room 1212/1213/1214, First Floor • Buerger Center for Advanced Pediatric Care Children’s Hospital of Philadelphia • 3500 Civic Center Blvd. • Philadelphia, PA 19104
Conference Webcast
The scientific meeting will be broadcast in real time at https://theglia.org/2025gliaconference. The live stream will begin at 8:00 a.m. EST on Thursday, February 27 and again at 8:00 a.m. EST on Friday, February 28. Video recordings of individual presentations will be made available via the same link in the weeks following the conference.
NOTE: Individuals planning to watch the meeting online do not need to register in advance; only in-person attendees are required to do so, as seating at the conference venue will be limited.
Parking and Directions
Parking is available in the Buerger Centerparking garage, labeled with a “B” on thecampus map below. Please contact OmarSherbini during the meeting to obtain aparking voucher.
Detailed driving and public transportation guidelines are available at https://www.chop.edu/patients-and-visitors/ main-campus-driving-directions
Hotel Arrangements
Complimentary hotel accommodations are available for meeting organizers, workgroup leaders and speakers; all other attendees will be responsible for arranging their own accommodations.
There are several reputable hotels located in the University City neighborhood, all of which are located within easy walking distance of the conference venue at the Children’s Hospital of Philadelphia.
The Study at University City (0.7 Miles) 20 S 33rd St, Philadelphia, PA 19104
Hilton Inn at Penn (0.8 Miles) 3600 Sansom St, Philadelphia, PA 19104
Sheraton Philadelphia University City (0.8 Miles) 3549 Chestnut St, Philadelphia, PA 19104
AKA University City (1.0 Miles) 2929 Walnut St, Philadelphia, PA 19104
Homewood Suites University City (1.1 Miles) 4109 Walnut St, Philadelphia, PA 19104
Many other hotel options are available in Center City. Most of these are within 5-10 minutes of the conference venue by carshare or taxi. Please contact Omar Sherbini at sherbinio@chop.edu for more information.
Travel Reimbursement
Partial travel reimbursement will be offered to meeting organizers, workgroup leaders, and speakers; all other attendees will be responsible for covering travel expenses independently. All reimbursementeligible attendees are asked to retain copies of itemized travel receipts, and to submit these, along with a completed IRS W-9 (US Guests) or W-8BEN (International Guests) tax form, to Omar Sherbini at sherbinio@chop.edu no later than Monday, March 31. Workgroup leaders and speakers who fail to provide these documents prior to the deadline may no longer be eligible for reimbursement.
Meeting Contact
Omar Sherbini, MPH, Clinical Research Administrative Director Division of Neurology • 3615 Civic Center Blvd. ARC 516H Philadelphia, PA 19104 • 215-590-3068 • sherbinio@chop.edu
2025 GLIA SCIENTIFIC MEETING – DAY 1
Thursday, February 27
7:30 a.m. - 4:00 p.m.
7:30 - 8:00 a.m. Check-In & Breakfast
8:00 - 8:15 a.m. Welcome and Introductions
Speaker: Adeline Vanderver, MD (Children’s Hospital of Philadelphia)
8:15 - 9:00 a.m. Loie Hammond Memorial Lectureship: Personalized Gene Therapy Development in an Academic Environment
Speaker: Simon Jones, MD (University of Manchester)
Concept Session I (Newborn Screening)
9:00 - 9:20 a.m. Newborn Screening and Therapeutic Development
Speaker: Maria Kefalas, PhD (Calliope Joy Foundation)
9:20 - 9:40 a.m. ALD Newborn Screening Follow-Up
Speaker: Marc Engelen, MD, PhD (Amsterdam University Medical Center)
9:40 - 10:00 a.m. ScreenPlus: A Newborn Screening Pilot Program
Speaker: Nicole Kelly, MPH (Albert Einstein College of Medicine)
10:00 - 10:25 a.m. Panel Discussion
Moderator: Laura Adang, MD, PhD (Children’s Hospital of Philadelphia)
10:25 - 10:50 a.m. Coffee Break
State of the Leukodystrophies Session I
10:50 - 11:00 a.m. Adrenoleukodystrophy (ALD)
Speaker: Eric Mallack, MD, MBE, MS (Kennedy Krieger Institute)
11:00 - 11:10 a.m. Aicardi- Goutières Syndrome (AGS)
Speaker: Laura Adang, MD, PhD (Children’s Hospital of Philadelphia)
11:10 - 11:20 a.m. Krabbe Disease
Speaker: Robert Thompson-Stone, MD (University of Rochester Medical Center)
11:20 - 11:30 a.m. Metachromatic Leukodystrophy (MLD)
Speaker: Francesca Fumagalli, MD, PhD (San Raffaele Telethon Institute for Gene Therapy)
11:30 - 1:00 p.m. Lunch and Advocacy Poster Session (Poster Session Begins 12:00 p.m.)
Concept Session II (Therapeutics)
1:00 - 1:20 p.m.
1:20 - 1:40 p.m.
1:40 - 2:00 p.m.
2:00 - 2:20 p.m.
2:20 - 2:45 p.m.
2:45 - 3:00 p.m.
Small Molecule Therapy Development in Vanishing White Matter
Speaker: Marjo van der Knaap, MD, PhD (Amsterdam University Medical Center)
Systemic AAV-mediated Gene Therapy for Canavan Disease
Speaker: Florian Eichler, MD (Mass General Brigham)
Challenges in Ex Vivo Gene Therapy
Speaker: Paul Orchard, MD(University of Minnesota)
Gene Editing in CSF1R-related Leukoencephalopathies
Speaker: Yedda Li, MD, PhD (Mass General Brigham)
Panel Discussion
Moderator: Keith Van Haren, MD (Stanford University)
Coffee Break
State of the Leukodystrophies Session II
3:00 - 3:10 p.m.
3:10 - 3:20 p.m.
3:20 - 3:30 p.m.
3:30 - 3:40 p.m.
Alexander Disease (AxD)
Speaker: Amy Waldman, MD, MSCE (Children’s Hospital of Philadelphia)
Canavan Disease
Speaker: Amanda Nagy, MD(Mass General Brigham)
Multiple Sulfatase Deficiency (MSD)
Speaker: Rebecca Ahrens-Nicklas, MD, PhD (Children’s Hospital of Philadelphia)
Pelizaeus Merzbacher Disease (PMD) and Pelizaeus-Merzbacher-like Disease (PMLD)
3:40 - 3:50 p.m.
Speaker: Nicole Wolf, MD, PhD (Amsterdam University Medical Center)
Vanishing White Matter (VWM)
Closing Activities (Day 1)
3:50 - 4:00 p.m.
Speaker: Marjo van der Knaap, MD, PhD (Amsterdam University Medical Center)
Debrief and Summary
Speaker: Adeline Vanderver, MD (Children’s Hospital of Philadelphia)
4:00 - 5:00 p.m.
In-Person Workgroup Meetings (Optional)
2025 GLIA Scientific Meeting - Networking Event
Please join us after the meeting for dinner and drinks at the College of Physicians of Philadelphia! It is a short bus, carshare, or taxi ride from the Children’s Hospital of Philadelphia campus, and a perfect opportunity to catch up with old colleagues and new acquaintances after a long day of presentations. No reservations are necessary.
Time: 6:00 - 9:00 p.m.
Location: The College of Physicians of Philadelphia
Address: 19 S. 22nd Street • Philadelphia, PA 19103
NOTE: During the event, guests will enjoy private access to the Mütter Museum and its extensive collection of anatomical and pathological specimens, wax models, and antique medical equipment.
2025 GLIA SCIENTIFIC MEETING – DAY 2
Friday, February 28
7:30 a.m. - 4:00 p.m.
7:30 - 8:00 a.m. Breakfast
8:00 - 8:30 a.m.
GLIA-CTN Collaboration and Sustainability
GLIA-CTN Executive Committee
Concept Session III (Diversity and Access)
8:30 - 8:50 a.m. Building Indigenous Genomic Data Sovereignty Amid Healthcare Inequities in Rare Disease
Speaker: Krystal Tsosie, PhD, MPH, MA (Arizona State University)
8:50 - 9:10 a.m. Equity in Screening and Diagnosis
Speaker: Marci Sontag, PhD (Center for Public Health Innovation)
9:10 - 9:30 a.m. Shared Decision Making in Gene Therapy
Speaker: Daniel Benedetti, MD, MA (Vanderbilt University Medical Center)
9:30 - 9:55 a.m. Panel Discussion
Moderator: Amena Smith Fine, MD, PhD (Kennedy Krieger Institute)
9:55 - 10:10 a.m. Coffee Break
State of the Leukodystrophies Session III
10:10 - 10:20 a.m. Autosomal Dominant Leukodystrophy (ADLD)
Speaker: Margot Cousin, PhD (Mayo Clinic)
10:20 - 10:30 a.m. Adult Refsum Disease (ARD)
Speaker: Mousumi Bose, PhD (Montclair State University)
10:30 - 10:40 a.m. CSF1R-related Leukoencephalopathy
Speaker: Jennifer Orthmann-Murphy, MD, PhD (University of Pennsylvania)
10:40 - 10:50 a.m. Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) and Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL)
Speaker: Amena Smith Fine, MD, PhD (Kennedy Krieger Institute)
10:50 - 11:00 a.m. Zellweger Spectrum Disorders (ZSD)
Speaker: Joe Hacia, PhD (University of Southern California)
11:00 - 11:30 a.m. Group Photo (Hub Staircase)
11:30 - 1:00 p.m. Lunch and Scientific Poster Session (Poster Session Begins 12:00 p.m.)
State of the Leukodystrophies Session IV
1:00 - 1:10 p.m. Cerebrotendinous Xanthomatosis (CTX)
1:10 - 1:20 p.m.
Speaker: Andrea DeBarber, PhD (Oregon Health & Science University)
HIKESHI-related Leukodystrophy
Speaker: Ayelet Zerem, MD (Tel Aviv Sourasky Medical Center)
1:20 - 1:30 p.m. Leukoencephalopathy with Calcifications and Cysts (LCC)
Speaker: Jamie Fraser, MD, PhD (Children’s National Hospital)
1:30 - 1:40 p.m. Pol III-related Leukodystrophy
Speaker: Geneviève Bernard, MD, MSc, FRCPC (McGill University)
1:40 - 1:50 p.m.
TUBB4A-related Leukodystrophy
Speaker: Francesco Gavazzi, MD, PhD (Children’s Hospital of Philadelphia)
1:50 - 2:05 p.m. Coffee Break
2:05 - 2:15 p.m
2:15 - 2:30 p.m
Concept Session IV (Patient Advocacy)
Advocacy Consortium Overview
Speaker: Melody Kisor, MS (Advocacy Consultant)
Communication Strategies in a Multidisciplinary Field
Speaker: Chris Feudtner, MD, PhD, MPH (Children’s Hospital of Philadelphia)
2:30 - 2:45 p.m.
2:45 - 3:00 p.m.
Advocacy Engagement Strategies
Speaker: Larry Bauer, MA, RN (Hyman, Phelps & McNamara, P.C.)
Panel Discussion I: Optimizing Engagement
Moderator: Sarah Stoney, MSW, LSW (Children’s Hospital of Philadelphia)
3:00 - 3:15 p.m. Expedited Drug Approval Pathways
Speaker: Larry Bauer, MA, RN (Hyman, Phelps & McNamara, P.C.)
3:15 - 3:30 p.m. Post-Approval Policy and Advocacy: Availability vs. Accessibility
Moderator: Erica Barnes, MA, CCC-SLP (Minnesota Rare Disease Advisory Council)
3:30 - 3:45 p.m. Panel Discussion II: Accelerating Breakthroughs
Moderator: Sarah Stoney, MSW, LSW (Children’s Hospital of Philadelphia)
Closing Activities (Day 2)
3:45 - 4:00 p.m. Closing Remarks
Speaker: Adeline Vanderver, MD (Children’s Hospital of Philadelphia)
ACKNOWLEDGEMENTS
The organizers of the 2025 Global Leukodystrophy Initiative Advocacy Workshop and Scientific Meeting would like to acknowledge the support of our closest industry partners, whose logos have been included in the section below. Thanks to their generous donations and sponsorships, the organizing committee was able to waive all registration fees, hire an audiovisual company to livestream and record the scientific meeting for those unable to attend in person, provide travel support for workgroup members who may have otherwise been unable to attend, and so much more. It would not have been possible to host this event without their support.
The organizers would also like to acknowledge the GLIA-CTN Advocacy Committee, including Committee Chair, Erica Barnes, MA, CCC-SLP (Minnesota Rare Disease Advisory Council), Co-Chair, Melody Kisor, MS (Advocacy Consultant), and Advocacy Liaison, Sarah Stoney, MSW, LCSW (Children’s Hospital of Philadelphia) for their leadership in organizing the 2025 GLIA Advocacy Workshop, and for their tireless efforts to engage the leukodystrophy advocacy community around common goals.
ABOUT THE GLOBAL LEUKODYSTROPHY INITIATIVE
The Global Leukodystrophy Initiative (GLIA) was founded in January 2013 as a resource to bring together diverse clinical, research, advocacy, industry, and regulatory stakeholders who shared common goals of developing more powerful diagnostic tools, uniform standards of care, and advanced therapies for individuals affected by leukodystrophies. In the years since, GLIA has spearheaded natural history projects and clinical trials, organized family and scientific meetings, and facilitated new partnerships between these diverse stakeholders.
Eventually, it became apparent that a more formal infrastructure was needed to support research activities within this network of scientific collaborators, not only to standardize data collection and analysis approaches, but also to expand budding efforts to identify novel biomarkers, launch multi-center clinical trials, and work with regulatory agencies to seek approval for therapies in these disorders.
In September 2019, Drs. Adeline Vanderver, MD (Children’s Hospital of Philadelphia), Ali Fatemi, MD, MBA (Kennedy Krieger Institute), and Florian Eichler, MD (Massachusetts General Hospital), were named as co-principal investigators on an Rare Diseases Clinical Research Network (RDCRN) grant, known as the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), and funded under grant number U54NS115052 as a collaboration between National Center for Advancing Translational Sciences (NCATS) and the National Institute of Neurological Disorders and Stroke (NINDS).
The award included support for investigators at other established leukodystrophy programs around the United States - Baylor College of Medicine (Lisa Emrick, MD, BA), Emory University (Stephanie Keller, MD), Children’s National Hospital (Jamie Fraser, MD, PhD), Stanford University (Keith van Haren, MD), University of Utah (Josh Bonkowsky, MD, PhD), and University of Wisconsin (Albee Messing, VMD, PhD) - many of whom had been involved since the early days of GLIA.
Since its inception nearly five years ago, the GLIA-CTN has succeeded in creating a robust multi-center clinical research infrastructure supported by IRB Reliance Agreements with nearly two dozen of the nation’s leading pediatric research institutions. Leveraging shared protocols, databases, and workflows, this network has generated one of the world’s largest repositories of leukodystrophy-specific natural history data, clinical outcome assessments, and biomarkers.
Building on this initial success, the GLIA-CTN now seeks to partner industry leaders and patient advocacy organizations within the leukodystrophy space to expand the existing infrastructure and, in return, support each stakeholder’s own research and development efforts with submission-ready data and expertise from some of the world’s leading clinical and scientific experts within the leukodystrophy space.
To learn more about the Consortium, please visit us online at https://theglia.org
