Resources

At The Lilly and Blair Foundation, we believe informed families are powerful allies in the fight against de novo SPG4. This page offers trusted resources to help you understand the disease, connect with the community, and participate in research. Whether you’re newly diagnosed or seeking the latest developments, these tools are here to support you every step of the way.

Research Participation

Explore opportunities to contribute to SPG4 research. Each of the programs below plays a unique role in advancing understanding, diagnosis, and treatment for Hereditary Spastic Paraplegia. Learn more and enroll on Research page.

Pediatric Natural History Study (SP-CERN)
Run by Boston Children’s Hospital, this study collects clinical data and biosamples from children and young adults (≤30 years) with early-onset SPG4. It helps identify trial-ready endpoints and supports the path toward therapies.

SP-CERN Registry and Biorepository
Through SP-CERN, patients of all ages can contribute to a centralized registry, biobank, and genomic archive—helping increase visibility of early-onset SPG4 and support research across multiple institutions.

SPG4 Biobank (Coriell Institute)
Families can donate blood or skin samples to Coriell’s NIGMS Repository, a global resource for SPG4 research. Samples have already helped create SPG4 brain organoids used to study disease and test treatments.

HSPseq Genomic Sequencing Initiative
Led by Boston Children’s Hospital, this study uses genomic sequencing to uncover genetic causes of childhood-onset spasticity. Open to children and young adults (1 month–30 years) with progressive spasticity.

Learn more on our Research page

Key Publications

Childhood-Onset SPG4: Clinical & Genetic Characteristics (2022)

This peer-reviewed study looked at 37 individuals with early-onset SPG4 and found that de novo mutations were more likely to cause severe and rapidly progressing symptoms. It provides important evidence that childhood-onset SPG4 is a distinct clinical subgroup.

Read the Study
Unveiling HDAC6 - A Promising Therapeutic Target for SPG4

Presented by Dr. Qiang (Drexel University), this research explores HDAC6 as a key driver of neurodegeneration in SPG4. Using advanced mouse models and patient-derived forebrain organoids, his team found that inhibiting HDAC6—particularly with the drug Tubastatin A—partially rescued axonal damage and improved motor function. These findings point to HDAC6 as a viable therapeutic target and highlight the value of combining disease modeling with high-throughput screening.

Download the PDF
Gene Therapy Advances for SPG4 (Coming Soon)

A manuscript submitted by our collaborators outlines the development of an AAV9 gene therapy approach to restore SPAST function in SPG4. Once published, we’ll share the paper and summarize what it means for clinical progress.
Status: Under peer review

Coming Soon

Community Insights

Patient engagement is essential to advancing SPG4 research and care. The following community-led efforts—created by parents and patients—offer valuable insights, shared experiences, and data that inform the scientific landscape while empowering families.

Understanding SPG4: A Parent’s Guide to Early-Onset De Novo SPG4 (p.Arg499His Mutation)

Created by a parent in collaboration with The Lilly and Blair Foundation, this guide offers a deeply personal, scientifically grounded overview of what it means to live with the rare p.Arg499His mutation in the SPAST gene. It walks families through:
• What de novo SPG4 is and how it differs from inherited forms
• What the p.Arg499His mutation does at the cellular level
• Why symptoms may be more severe in early-onset, de novo cases
• Frequently asked questions about genetics, severity, recurrence risk, and care
• Key researchers, clinical research landscape, and family-friendly explanations of complex topics
This is the most mutation-specific, family-centered SPG4 resource available—and it was written to empower and inform parents navigating a new diagnosis.

Coming Soon
Childhood-Onset HSP Report

This ongoing community-led survey was created and is maintained by two HSP parents, Bridget Lassig and Ece Filiz. It is open to anyone diagnosed with Hereditary Spastic Paraplegia (HSP)—regardless of subtype—who began showing symptoms before age 18.

Why it matters:
The goal is to build a broader understanding of early-onset HSP by collecting family-reported data on symptoms, diagnoses, and genetic variants. This resource supports researchers, helps families connect, and contributes to reducing misdiagnosis through shared insight.
An updated report will be released in August 2025.

View the 2022 Report

How Can You Help?

DONATE

Make a meaningful impact by contributing directly to our campaign! Don’t forget to check if your employer offers matching donations—your gift could go even further.
Consider setting up a Facebook fundraiser for your birthday, the holiday season, or simply to spread kindness.
If you’re active on Instagram, it’s easy to make a difference! Create a post, select "Add Fundraiser," choose The Lilly and Blair Foundation, fill in the details, and then share it with your followers.

Every contribution counts and 100% of donations will go to research that supports finding a treatment or cure for childhood-onset, de novo SPG4.
SHARE

Stay connected with us on social media @lillyandblair. Share our mission and stories with your friends and family to help raise awareness.
Download our informative one-pager and distribute it to your loved ones and community.

Together, we can spread the word and inspire others to join our cause.
PARTICIPATE

Get involved by joining us at our upcoming events or consider hosting your own. Your participation makes a difference.
Mark Your Calendar:
5K Run, Roll, and Stroll (+Play!)
Saturday, October 18 | McLean, VA or virtual

Play it Forward for a Cure: A Night of Music and Momentum
Friday, December 5 | National Harbor

4th Annual Golf Tournament and Dinner
Friday, May 26, 2026 | Clifton, VA