Inside the 2025 Research Roundtable
A New Era for Superficial Siderosis Research Begins
Held on June 13, 2025, during the SSRA Symposium at Harvard University, the 2025 Research Roundtable brought together world-renowned experts and empowered patients to answer a vital question:
“What must we do next to slow, stop, or prevent superficial siderosis (SS)?”
Rethinking Prevalence: How Rare Is SS?
“Our data shows SS could affect 40 in 100,000 people—not 1 in a million.”
— Dr. David Werring, UCL Queen Square
New UK Biobank research is revealing a startling truth: SS may be significantly underdiagnosed.
To clarify prevalence and gain support from pharmaceutical partners, researchers proposed:
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Reviewing large MRI cohorts (Framingham, Rotterdam, Veterans)
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Activating clinician alerts through the UK’s RADAR network
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Expanding SSRA’s global patient registry (now in 20+ countries)
Imaging Advances: Measuring the Invisible
“We need a scale that reflects both iron and degeneration—this is how we design smart trials.”
— Dr. Michael Levy, Harvard Medical School
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Dr. Levy’s early imaging scale was insightful but needed refinement.
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Dr. Natallia Kharytunik developed a new anatomical rating system validated across 12,000 MRIs.
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Prof. Werring stressed the value of tracking volume loss in key areas like the cerebellum and spinal cord.
Next Step: A new Imaging Working Group will standardize tools to combine iron load and brain degeneration—critical for future trials.
Biomarkers & CSF: Promise, Risk & Patient Voice
“That lumbar puncture gave me hope—something we could actually measure.”
— Rhys Holmes, patient advocate
Spinal fluid biomarkers like CSF ferritin could act as long-term indicators of internal bleeding. But opinions vary:
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Some patients value routine taps if done safely
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Others, like Dr. Pamela Lim, warn of long-term harm from poorly performed procedures
Key Principle: Never mandatory. Always optional. Where possible, samples will be collected during procedures patients are already undergoing.
Genetics: Unlocking Susceptibility
“Some patients may be genetically predisposed—understanding this is key.”
— Dr. Wouter Schievink, Cedars-Sinai
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Genetic variants (e.g., Fibrillin-2) have been linked to spontaneous leaks.
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Researchers aim to study ferritin-related genes and tap into large-scale databases like:
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All of Us (USA)
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Million Veteran Program
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European Biobanks
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Goal: Identify who is at risk and why some patients decline faster than others.
Natural History & Risk Scores
“Let’s take a page from oncology—predict progression, personalize care.”
— Dr. Philip Haddad, hematologist
SS presents differently in each patient. The team proposed a risk scoring model using:
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Cause of bleed
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Imaging results
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CSF markers
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Genetic data
Purpose: Prioritize treatment and trial eligibility, especially when resources are limited.
Two Pillars of Treatment
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Stop the Bleed
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Dr. Schievink will lead creation of a standardized surgical protocol for repairing spinal leaks and dural defects.
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Clear the Iron
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Deferiprone is widely used, but more data is needed.
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Plans are underway for a safety study combining MRI, blood tests, and biomarkers.
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The team also aims to test next-gen brain-penetrant chelators in clinical trials.
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“We really should be doing this—blood, spinal fluid, MRI, tied together in one siderosis biobank.”
— Dr. Michael Levy
