4th Annual Scientific
Symposium on SPG4
Wednesday, March 25-Friday, March 27, 2026
Boston, MA or Virtual
Co-hosted by The Lilly and Blair Foundation and Boston Children’s Hospital
The premier gathering for childhood-onset SPG4 research returns in 2026 — uniting leading scientists, clinicians, industry innovators, patient advocates, and families for three days of focused collaboration. Designed to accelerate the path from discovery to treatment, the symposium will feature experts from across the U.S. and abroad, offering a rare opportunity to share knowledge, align priorities, and drive progress.
The centerpiece of the event, the Scientific Symposium will take place on Thursday, March 26, bringing researchers together to share the latest advances in gene therapy, drug repurposing, model validation, and near-term therapeutic targets. These discussions will be bookended by SP-CERN clinical assessments and intakes on Wednesday and Friday, significantly expanded from last year to allow for broader participation and more in-depth evaluations.
We also plan to create opportunities for families to connect through informal networking, happy hours, or group activities — making this not only a scientific milestone but a community-building event. Scroll down for more details about this year’s event, view last year’s symposium summary, or learn more about the SP-CERN.
Registration Options
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In-Person Registration: $100
Your $100 in-person registration fee covers your entire family attending in person under one order. Registration includes full access to all sessions, networking opportunities with researchers and families, and on-site materials.
In-person registration is open to all individuals wishing to attend the Symposium in Boston. This includes families of patients with childhood-onset SPG4 who are interested in SP-CERN assessment and enrollment, as well as anyone affiliated with SPG4 who would like to learn more.
Registration fees help cover essential event costs such as room rentals, audio/visual support, and materials needed to bring this important gathering to life. -
Virtual Registration: $25
Your $25 registration includes live-stream access to all sessions, digital conference materials, and the chance to submit questions during Q&A sessions with researchers and speakers.
Registration fees help cover essential event costs, including room rentals, audio/visual support, and the technology that makes virtual participation possible.
Agenda at a Glance
This year’s symposium will focus on childhood-onset SPG4 and includes opportunities for families, researchers, and clinicians to connect. The full agenda is still in development. Stay tuned for updates and additional speaker announcements.
Wednesday, March 25 | Assessment and Family Day
| 1:30–1:45 pm |
Welcome and Orientation
Katie Gregg — The Lilly and Blair Foundation
Chris Lorek — The Lilly and Blair Foundation Darius Ebrahimi-Fakhari, MD, PhD — HSP Research Team at Boston Children’s Hospital |
| 1:45–2:45 pm |
Research 101: Therapies and Models That Drive Progress
Miguel Sena-Esteves, PhD — UMass Chan Medical Center
Heather Gray-Edwards, PhD, DVM — UMass Chan Medical Center Peter Baas, PhD — Drexel University Oscar Liang, MD, PhD — Drexel University |
| 2:45–3:00 pm | Break |
| 3:00–3:30 pm |
Understanding the Research Pipeline
Darius Ebrahmi-Fakhari, MD, PhD — HSP Research Team at Boston Children’s Hospital
Rotem Or Bach, MD — The National Institutes of Health (NIH) |
| 3:30–4:00 pm |
Clinical Trials Demystified
Steven Gray, PhD — UT Southwestern
Michael Shy, MD — University of Iowa |
| Evening | Networking Evening (TBD) |
Thursday, March 26 | Scientific Symposium Day
| 9:15–9:45 am | Registration |
| 9:45–10:00 am |
Welcome and Overview
Darius Ebrahmi-Fakhari, MD, PhD — Boston Children’s Hospital
Katie Gregg — The Lilly and Blair Foundation Chris Lorek — The Lilly and Blair Foundation |
| Session 1: Accelerate Pre-Clinical Progress for Gene-Replacement Therapy | |
| 10:00–10:20 am |
Next Generation Dual-Function AAV Vectors for SPAST Silencing and Replacement
Miguel Sena-Esteves, PhD — UMass Chan Medical School
|
| 10:20–10:40 am |
Preclinical Evaluation of SPAST Gene Replacement in Novel SPG4 Mouse Models
Emanuela Piermarini, PhD — Drexel University
|
| 10:40–11:00 am |
Translational Insights from Rat Models of SPAST Gene Replacements
Molly Lettman, PhD — University of Wisconsin–Madison
|
| 11:00–11:20 am |
Defining Pre-IND Pathways for SPAST Gene Therapy: Regulatory and Manufacturing Perspectives
Heather Gray-Edwards, PhD, DVM — UMass Chan Medical Center
|
| 11:20–11:40 am |
Questions and Comments
Moderators: Stefan Hauser, PhD — DZNE; Steven Gray, PhD — UT Southwestern
|
| 11:40–11:55 am | Coffee Break |
| Session 2: Validate Models and Integrate Insights | |
| 11:55 am–12:15 pm |
AAV-Mediated SPAST Gene Replacement in an SPG4 Rat Model
Molly Lettman, PhD — University of Wisconsin–Madison
|
| 12:15–12:35 pm |
Isogenic Forebrain Organoids Illuminate Genotype-Phenotype Mechanisms in SPG4
Oscar Liang, MD, PhD — Drexel University
|
| 12:35–12:55 pm |
Preclinical Mouse Model Development for the SPG4 p.Arg499His Variant
Peter Baas, PhD — Drexel University
|
| 12:55–1:15 pm |
Questions and Comments
Moderators: Craig Blackstone, MD, PhD — Massachusetts General Hospital; Stephan Zuchner, MD, PhD — University of Miami
|
| 1:15–2:00 pm | Lunch Break |
| Session 3: Accelerate Clinical Trial Readiness | |
| 2:00–2:20 pm |
Clinical and Molecular Genotype-Phenotype Correlations in Childhood-Onset SPG4
Julian Alecu, MD — Boston Children’s Hospital
|
| 2:20–2:40 pm |
SP-CERN Multi-Center Natural History, Registry and Biorepository Efforts
Darius Ebrahmi-Fakhari, MD, PhD — Boston Children’s Hospital
Stephan Zuchner, MD, PhD — University of Miami Joshua Burns — Boston Children’s Hospital Michael Shy, MD — University of Iowa |
| 2:40–3:10 pm |
International Collaborative Initiatives Toward Trial Readiness
Rebecca Schuele, MD — University of Heidelberg and TreatHSP
Marcondes Franca, MD, PhD — Campinas, São Paulo, Brazil Seungbok Lee, MD, PhD — Seoul National University Hospital |
| 2:40–3:00 pm |
Questions and Comments
Moderators: Matthew Elrick, MD, PhD — Kennedy Krieger Institute; Rotem Or Bach, MD — The National Institutes of Health (NIH)
|
| 3:00–3:15 pm | Coffee Break |
| Session 4: Identify and Prioritize Near-Term Potential Therapies | |
| 3:15–3:35 pm |
HDAC Inhibitors and Small-Molecule Modulators
Oscar Liang, MD, PhD — Drexel University
|
| 3:35–3:55 pm |
M1-Targeted Antibody Strategy and Biomarker Development
Peter Baas, PhD — Drexel University
|
| 3:55–4:15 pm |
Questions and Comments
Moderators: Craig Blackstone, MD — Massachusetts General Hospital; Michael Shy, MD — University of Iowa
|
| 4:15–5:00 pm |
Wrap up
Darius Ebrahmi-Fakhari, MD, PhD — Boston Children’s Hospital
Katie Gregg — The Lilly and Blair Foundation Chris Lorek — The Lilly and Blair Foundation |
Friday, March 27 | Assessment and Family Day
| 9:00–10:00 am |
Ask the Experts: Open Q&A Panel
Miguel Sena-Esteves, PhD — UMass Chan Medical School
Darius Ebrahmi-Fakhari, MD, PhD — Boston Children’s Hospital Matthew Elrick, MD, PhD — Kennedy Krieger Institute Peter Baas, PhD — Drexel University Oscar Liang, MD, PhD — Drexel University |
| 10:00–10:15 am | Coffee Break |
| 10:15–10:45 am |
Therapeutic Strategies at Home
Elizabeth Hodge — Boston Children’s Hospital
Additional Speakers — TBD |
| 10:45–11:15 am |
Coping, Resilience and Support
Speakers — TBD
|
| 11:15 am–12:00 pm |
Family Networking and Resource Sharing
Speakers — TBD
Moderators: Katie Gregg — The Lilly and Blair Foundation; Chris Lorek — The Lilly and Blair Foundation |
Assessment Overview
Families affected by childhood-onset SPG4 are invited to schedule an appointment for one of the in-person assessment days.
To reserve the appropriate team members and rooms for your visit, please contact the study team at hsp.research@childrens.harvard.edu with the subject line “Scientific Symposium on SPG4 - Assessment Scheduling”. Below you’ll find additional details on what to expect during your assessment.
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The Baseline Assessment provides a detailed picture of your medical history, symptoms, and functional abilities. Each year, a Follow-Up Assessment helps track any changes and updates over the past year.
These visits are valuable both for families and for research:
They help clinicians understand how to diagnose and manage SPG4.
They provide researchers with information to develop and test potential treatments.
They give families an opportunity to ask questions, hear research updates, and receive expert feedback that can help personalize care.
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Welcome & Introduction (≈15 minutes)
Meet the study team
Review study purpose and consent process (baseline or re-consent only)
Walk through the day’s agenda
Clinical & Medical History (≈30 minutes)
Eligibility screening (baseline only)
Demographics
Current medications
Medical and treatment history
Standardized Questionnaires & Physical Assessments (≈1 hour)
The study team will complete a set of standardized assessments to measure mobility, function, muscle tone, and cognition. These may include:Spastic Paraplegia Rating Scale (SPRS) and modified version (mSPRS)
10-Meter Walk Test & Two-Minute Walk Test (if applicable)
Five-Stage Functional Mobility Scale
SPATAX Disability Scale
Modified Ashworth Scale (mAS)
Edinburgh Cognitive and Behavioral ALS Screen
Clinical Global Impression (CGI)
Research Updates & Discussion (≈15 minutes)
Learn about current SPG4 research
Ask questions directly to the study team
Review your visit and next steps
Patient-Reported Outcome Measures (≈45–90 minutes)
Patients and caregivers will also be asked to complete questionnaires online either before, during, or after the study visit. The study team will provide a personalized survey link with only the measures that apply. Questionnaires may include:Caregiver Priorities & Child Health Index of Life with Disabilities (CPCHILD)
Friedreich Ataxia Rating Scale – Activities of Daily Living (FARS-ADL)
Short Form-36 (SF-36)
EuroQol-5D (EQ-5D)
Patient/Caregiver Global Impression (P/CGI)
TreatHSP-QoL
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The order of activities may vary slightly between families.
Timing is approximate and annual follow-up visits are shorter than the baseline assessment.
The Boston team will be seeing many patients in a limited timeframe. Please be respectful of your scheduled slot by keeping additional questions brief and sticking to your allotted appointment time. If more follow-up is needed, the study team is available by email at hsp.research@childrens.harvard.edu.
Hotel Information
A small number of rooms have been reserved at a discounted rate at the Marriott Residence Inn Back Bay/Fenway and the Hilton Garden Inn Brookline. Please use the links below to book your room at the group rate.
Residence Inn by Marriott Boston Back Bay/Fenway
125 Brookline Ave, Boston MA 02215
Book your room here >>
Rate: $269 + taxes and fees
Room type: Queen bed with sofa bed
Available the nights of Tuesday, March 24 through Friday, March 27, 2026
Booking Deadline: Monday, February 23, 2026 (or until sold out). After this date, reservations are subject to availability and the hotel’s prevailing rates.
Hilton Garden Inn Brookline
700 Brookline Ave, Boston MA 02446
Book your room here >>
Rate: $239 + taxes and fees
Room type: Two queen beds
Available the nights of Tuesday, March 24 through Thursday, March 26, 2026
Booking Deadline: Wednesday, March 25, 2026 (or until sold out). After this date, reservations are subject to availability and the hotel’s prevailing rates.
Please note: Both room blocks are limited and expected to sell out prior to the booking deadlines. Additional rooms may only be released at the discretion of the hotel and are not guaranteed at the group rate. We strongly recommend reserving your room early to secure the best rate and your preferred hotel.
Which hotel should I choose?
Dates: If you plan to stay through Friday night, please book the Residence Inn by Marriott, as the Hilton block does not include Friday night. If you are departing by Thursday night, either hotel is a good option depending on your room preference and location.
Distance to Assessments: The Hilton Garden Inn is 0.1 miles from the assessment location, while the Residence Inn is 1.3 miles away.
Distance to Symposium: Both hotels are approximately 0.7 miles from the Scientific Symposium venue.
Accessibility: Boston offers a reliable Uber WAV (wheelchair accessible vehicle) program. We recommend making Uber or taxi reservations in advance when possible to ensure availability.
