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

Agenda and Assessment Info

Registration

Hotel Information

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

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.

View Details and Register Now
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.

View Details and Register Now

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

Assessments: 2 Brookline Place, Brookline, MA 02445 · Family Day: 700 Brookline Avenue, Brookline, MA 02446

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 Ebrahimi-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

Venue: 1 Autumn Street, Basement Auditorium A, Boston, MA 02115

9:15–9:45 am	Registration
9:45–10:00 am	Welcome and Overview Darius Ebrahimi-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

Venue: 2 Brookline Place, Brookline, MA 02445

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.

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.
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
- 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.

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

4th Annual Scientific Symposium on SPG4

In-Person Registration: $100

Virtual Registration: $25

Agenda at a Glance

Wednesday, March 25 | Assessment and Family Day

Thursday, March 26 | Scientific Symposium Day

Friday, March 27 | Assessment and Family Day

Assessment Overview

Assessment Overview

What to Expect

Important Notes for Families

Hotel Information

4th Annual Scientific
Symposium on SPG4