2022 GLIA Advocacy Workshop and Scientific Meeting

2022 Global Leukodystrophy Initiative Conference Advocacy Workshop and Scientific Meeting

Sunday, October 9 through Tuesday, October 11

The Global Leukodystrophy Initiative (GLIA) is thrilled to welcome you to the 2022 Advocacy Workshop and Scientific Meeting. 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 leukodystrophies, and identify opportunities for meaningful new interdisciplinary partnerships to address persistent challenges in the diagnosis, care, and treatment of affected individuals.

The conference begins on Sunday, October 9, with an Advocacy Workshop reserved primarily for patient advocacy leaders. With over a dozen new advocacy organizations represented since this workshop was last held in 2019, we are pleased to bring the community together in a forum designed to facilitate collaboration among leaders. The overarching goal of the workshop will be to identify and prioritizing the critical needs of the leukodystrophy community.

The two-day Scientific Meeting takes place on Monday, October 10 and Tuesday, October 11. Sessions will focus on significant clinical and research advances within 17 leukodystrophies, with disease-specific workgroups comprising internationally recognized experts presenting recent successes and persistent challenges. The primary goal of the meeting will be to provide attendees with a comprehensive overview of the current state of disease-modifying therapeutic development and clinical pathway development within each disorder, allowing stakeholders to identify new opportunities for collaboration and partnership.

Meeting Location (2022 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

Location (2022 GLIA Scientific Meeting)

Main Auditorium • Hub for Clinical Collaboration Children’s Hospital of Philadelphia • 3501 Civic Center Blvd. • Philadelphia, PA 19104

Conference Webcast

The scientific meeting will be broadcast in real time at https://theglia.org/2022gliaconference The live stream will begin at 8:30 a.m. EDT on Monday, October 10, and again at 8:30 a.m. EDT on Tuesday, October 11. 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 meeting venue will be limited.

Parking and Directions

Guest parking is available free of charge in the Buerger Center parking garage, labeled with a “B” on the campus map below. Please contact Omar Sherbini during the meeting to obtain a parking pass.

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 invited workgroup leaders and speakers only; 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 is available for workgroup leaders and speakers only; all other attendees will be responsible for covering their travel expenses independently. All workgroup leaders and speakers seeking travel reimbursement are asked to retain copies of itemized travel receipts, and to submit these, along with a completed W-9 (US Guests) or W-8BEN (International Guests) tax form, to Omar Sherbini at sherbinio@chop.edu no later than Monday, October 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 Manager Division of Neurology • 3615 Civic Center Blvd. ARC 516H Philadelphia, PA 19104 • 215-590-3068 • sherbinio@chop.edu Pediatric Ambulatory

2022 GLIA SCIENTIFIC MEETING – DAY 1

Monday, October 10 — 8:00 a.m. to 5:00 p.m.

8:00 - 8:30 a.m. Breakfast

8:30 - 9:00 a.m. Welcome and Introductions

Speakers: Adeline Vanderver, MD, Brenda Banwell, MD, Susan Furth, MD, PhD

Session I

9:00 - 9:45 a.m. Aicardi- Goutières Syndrome

Workgroup Leader: Laura Adang, MD, PhD (Children’s Hospital of Philadelphia)

Speaker No. 1: Francesco Gavazzi, MD, PhD (Children’s Hospital of Philadelphia)

Speaker No. 2: Markus Hofer, MD (University of Sydney)

9:45 - 10:30 a.m. Canavan Disease

Workgroup Leader: Florian Eichler, MD (Massachusetts General Hospital)

Speaker No. 1: Annette Bley, MD (University Medical Center Hamburg)

Speaker No. 2: Dominic Gessler, MD, PhD (University of Minnesota)

10:30 - 10:45 a.m. Coffee Break

Session II

10:45 - 11:30 a.m. Krabbe Disease

Workgroup Leader: Gustavo Maegawa, MD, PhD (Columbia University)

Speaker No. 1: Allison Bradbury, MS, PhD (Nationwide Children’s Hospital)

Speaker No. 2: Daesung Shin, PhD (University at Buffalo)

11:30 a.m. - 12:15 p.m. Multiple Sulfatase Deficiency (MSD)

Workgroup Leader: Rebecca Ahrens-Nicklas, MD, PhD (Children’s Hospital of Philadelphia)

Speaker No. 1: Lars Schlotawa, MD (University Medical Center Goettingen)

Speaker No. 2: Laura Adang, MD, PhD (Children’s Hospital of Philadelphia)

12:15 - 1:00 p.m. Lunch

Session III

1:00 - 1:45p.m.

Adrenoleukodystrophy (ALD)

Workgroup Leader: Ali Fatemi, MD, MBA (Kennedy Krieger Institute)

Speaker No. 1: Christine Duncan, MD (Boston Children’s Hospital)

Speaker No. 2: Marc Engelen, MD, PhD (Amsterdam University Medical Centers)

1:45 - 2:30 p.m. Alexander Disease

Workgroup Leader: Amy Waldman, MD, MSCE (Children’s Hospital of Philadelphia)

Speaker No. 1: Davide Tonduti, MD, PhD (Ospedale dei Bambini V. Buzzi)

Speaker No. 2: Tracy Hagemann, PhD (University of Wisconsin - Madison)

2:30 - 2:45 p.m. Coffee Break

Session IV

2:45 - 3:30 p.m.

Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL) and Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Workgroup Leader: Amena Smith-Fine, MD, PhD (Kennedy Krieger Institute)

Speaker No. 1: Beth Frigola McGinn, BA (Cure LBSL)

Speaker No. 2: Christina Mertz, PhD (Kennedy Krieger Institute)

3:30 - 4:15 p.m.

Metachromatic Leukodystrophy (MLD)

Workgroup Leader: Samuel Gröschel, MD, PhD (University of Tübingen)

Speaker No. 1: Caroline Sevin, MD, PhD (INSERM)

Speaker No. 2: Nicole Wolf, MD, PhD (Amsterdam University Medical Centers)

4:15 - 5:00 p.m.

Vanishing White Matter Disease (VWM)

Workgroup Leader: Marjo van der Knaap, MD, PhD (Amsterdam University Medical Centers)

Speaker No. 1: Marianna Bugiani, MD, PhD (Amsterdam University Medical Centers)

Speaker No. 2: Paul Tesar, PhD (Case Western Reserve University School of Medicine)

5:00 p.m. Announcements and Wrap-Up (Day 1)

2022 GLIA SCIENTIFIC MEETING EVENT

Time: 6:00 - 9:00 p.m.

Location: PHS Pop Up Garden Address: 1438 South Street, Philadelphia, PA 19146

NOTE: In the event of inclement the networking event will be moved to an indoor location at Royal Boucherie, a lively French-inspired brasserie located in Philadelphia’s Old City neighborhood at 52 South 2nd Street, Philadelphia, PA 19106.

2022 GLIA SCIENTIFIC MEETING – DAY 2

Tuesday, October 11 — 8:00 a.m. to 4:30 p.m.

8:00 - 8:30 a.m. Breakfast

Session V

8:30 - 9:15 a.m. Pelizaeus Merzbacher Disease (PMD)

Workgroup Leader: Nicole Wolf, MD, PhD (Amsterdam University Medical Centers)

Speaker No. 1: Chloe Stutterd, MD, PhD (Murdoch Children’s Research Institute)

Speaker No. 2: Gesine Saher, PhD (Max Planck Institute)

Speaker No. 3: Jigyasha Sinha, MD (Institute of Neurosciences Kolkata)

9:15 - 10:00 a.m. Pol III-related Leukodystrophy (4H)

Workgroup Leader: Geneviève Bernard, MD, MSc, FRCP (McGill University)

Speaker No. 1: Nicole Wolf, MD, PhD (Amsterdam University Medical Centers)

10:00 - 10:15 a.m. Coffee Break

Session VI

10:15 - 11:00 a.m. Salla Disease

Workgroup Leader: Melissa Wasserstein, MD (Albert Einstein College of Medicine)

Speaker No. 1: David Adams, MD, PhD (National Human Genome Research Institute)

Speaker No. 2: Marjan Huizing, PhD (National Human Genome Research Institute)

11:00 - 11:45 a.m. TUBB4A-related Leukodystrophy

Workgroup Leader: Adeline Vanderver, MD (Children’s Hospital of Philadelphia)

Speaker No. 1: Sunetra Sase, PhD (Children’s Hospital of Philadelphia)

Speaker No. 2: Henry Houlden, MD, PhD (University College London)

11:45 a.m. - 12:00 p.m. Group Photo

12:00 - 1:00 p.m. Lunch

Session VII

1:00 - 1:45 p.m. Cerebrotendinous Xanthomatosis (CTX)

Workgroup Leader: Andrea DeBarber, PhD (Oregon Health & Science University) Speaker No. 1: Robert Steiner, MD (University of Wisconsin)

1:45 - 2:30 p.m.

Autosomal-Dominant Leukodystrophy (ADLD)

Workgroup Leader: Quasar Padiath, MBBS, PhD (University of Pittsburgh)

Speaker No. 1: Julia Kofler, MD (University of Pittsburgh)

Speaker No. 2: Raili Raininko, MD, PhD (Uppsala University)

2:30 - 2:45 p.m. Coffee Break

Session VIII

2:45 - 3:30 p.m. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)

Workgroup Leader: Jennifer Orthmann-Murphy, MD, PhD (University of Pennsylvania)

Speaker No. 1: Troy Lund, MD, PhD, FAAP (University of Minnesota)

Speaker No. 2: Josh Bonkowsky, MD, PhD (University of Utah)

3:30 - 4:15 p.m. Refsum Disease (Adult)

Workgroup Leader: Joseph Hacia, PhD (University of Southern California)

Speaker No. 1: Florian Eichler, MD (MassachusettsGeneral Hospital)

Speaker No. 2: Kristie DeMarco, BS (Global DARE Foundation)

4:15 - 4:30 p.m.

Closing Remarks and Meeting End

ACKNOWLEDGEMENTS

The organizers of the 2022 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 (Minnesota Rare Disease Advisory Council), Co-Chair, Patrick Winters (AGSAA), and Subcommittee Leader, Kristie DeMarco (Global DARE Foundation), for partnering with SmithSolve to organize the 2022 GLIA Advocacy Workshop, and for their tireless efforts to engage the leukodystrophy advocacy community around common goals.

ABOUT US

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 as a collaboration between the National Center for Advancing Translational Sciences (NCATS) and the National Institute of Neurological Disorders and Stroke (NINDS).

The award included support for investigators at several other key established leukodystrophy research institutions—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) —most of whom had been involved since the early days of GLIA.

GLIA-CTN is currently in its first five-year funding cycle and has focused on four well-defined projects designed to develop tools and systems to meet the needs of future clinical trials in the leukodystrophies. Its goal is to establish a multi-center research infrastructure that can be used to launch clinical trials more efficiently, quickly, and safely. Clinical outcome assessments and biomarkers developed and validated as part of the current research projects are already being used to support ongoing clinical trials in adrenomyeloneuropathy (AMN), Aicardi-Goutières syndrome (AGS), and Alexander disease, along with other leukodystrophies. The natural history components of its projects are expected to catalyze development of the first-in-human clinical trials for several other leukodystrophies, and provide key information about disease onset, manifestation, and trajectory that can be used to inform the guidance patients and families receive in the clinical setting.

To learn more about the Consortium, please visit us online at https://theglia.org.