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 Meeting, 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.
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 speaker announcements.
Draft Agenda (as of September 12, 2025)
| Time | Session & Description |
|---|---|
| 1:30–1:45 pm | Welcome and Orientation An introduction to the 2026 Symposium: why this gathering matters, how families contribute to advancing SPG4 research, and what to expect across the next three days. |
| 1:45–2:45 pm | Research 101: Therapies and Models That Drive Progress A family-friendly primer on leading therapeutic approaches—replacing faulty genes, repurposing existing drugs, and testing new molecular strategies—plus how mouse models are built, why they’re essential for studying SPG4, and how they advance treatments toward clinical trials. |
| 2:45–3:00 pm | Break |
| 3:00–3:30 pm | Understanding the Research Pipeline How discoveries move from the lab into preclinical models, then into clinical trials, and finally into approved therapies—demystifying key terms and processes families will hear during Thursday’s sessions. |
| 3:30–4:00 pm | Clinical Trials Demystified What participation means: how safety is ensured, how outcomes are measured, and typical timelines—plus practical insights from rare neurogenetic trials. |
| TBD | Networking Evening |
| Time | Session & Description |
|---|---|
| 8:30–9:00 am | Registration |
| 9:00–9:15 am | Welcome and Overview Framing session to set expectations, outline objectives, and preview the program for productive collaboration. |
| 9:15–11:15 am | Session 1: Accelerate Pre-Clinical Progress for Gene-Replacement Therapy Latest data driving SPAST gene-replacement strategies forward; innovations in vector design and functional testing; defining next experimental milestones and regulatory endpoints toward pre-IND readiness. |
| 11:15–11:30 am | Coffee Break |
| 11:30 am–12:50 pm | Session 2: Validate Models and Integrate Insights Integration across humanized mouse models, patient-derived organoids, and in vivo studies, emphasizing cross-model validation and translational alignment to strengthen the evidentiary base for therapeutic development. |
| 12:50–1:30 pm | Lunch Break |
| 1:30–3:10 pm | Session 3: Accelerate Clinical Trial Readiness Genotype–phenotype correlations, outcome-measure refinement, and multi-center collaborations setting the stage for consensus on design elements critical for first-in-human studies. |
| 3:10–3:25 pm | Coffee Break |
| 3:25–4:45 pm | Session 4: Identify and Prioritize Near-Term Potential Therapies Landscape beyond gene replacement: small molecules (e.g., HDAC inhibitors), intrabodies, and symptomatic interventions; evaluating preclinical strength, feasibility, and translational potential to prioritize near-term candidates. |
| 4:45–5:15 pm | Wrap Up Reinforcing collaborative mechanisms—leveraging SP-CERN biobanked samples, shared clinical datasets, and cross-institutional partnerships. Outlining immediate next steps and post-meeting summary notes; families may submit questions in advance for Friday’s Family session. |
| TBD | Networking Evening |
| Time | Session & Description |
|---|---|
| 9:00–10:00 am | Ask the Experts: Open Q&A Panel A moderated panel where families’ pre-submitted and live questions are answered in clear, accessible language by leading researchers and clinicians. |
| 10:00–10:15 am | Coffee Break |
| 10:15–10:45 am | Therapeutic Strategies at Home Practical guidance for managing spasticity, mobility, and daily function at home—PT/OT, orthopaedics, PMR, and neurosurgery perspectives. |
| 10:45–11:15 am | Coping, Resilience and Support Strategies for navigating the emotional and psychosocial impact of SPG4 on children, siblings, and parents—tools for resilience and support. |
| 11:15 am–12:00 pm | Family Networking and Resource Sharing Connect with other families, share practical resources, and strengthen the SPG4 community. |
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. 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.
