SMA Research Platform

Evidence graph for Spinal Muscular Atrophy

Biology-first target discovery
Christian Fischer / Bryzant Labs
14,766Targets
453Trials
84Drugs
7Datasets
6,987Sources
64,683Claims
72,052Evidence
29,649Hypotheses

AAV Capsid Evaluation

EXPLORATORY
9 capsids · cargo 2.8 kb

AAV serotype evaluation for SMA gene therapy delivery. 9 capsids scored across motor neuron tropism, BBB crossing, immunogenicity (NAb seroprevalence), manufacturing feasibility, and packaging capacity. Zolgensma uses AAV9 (scAAV9-SMN1).

9
Total Capsids
4
Recommended
3
Viable
2
Not Recommended
How does AAV capsid scoring work?

Why AAV9 for Zolgensma? AAV9 combines the highest motor neuron tropism (~90%) with efficient BBB crossing in neonates and a proven manufacturing process for clinical-grade production. Pre-existing neutralising antibodies (NAbs) exclude patients with anti-AAV9 titres above 1:50.

Composite Score weights tropism, BBB crossing, immunogenicity, manufacturing, and packaging fit. PHP.eB is mouse-specific (LY6A receptor) and does not translate to primates. AAVrh10 and AAV-B1 are in preclinical evaluation as alternatives.

Delivery Strategies

Neonatal IV (Zolgensma model)
Capsid: AAV9 (scAAV9-SMN1)

Proven in >3,000 patients. BBB crossing excellent in neonates (<2 years). One-time IV dose. Manufacturing scaled. NAb screening required.

Limitations: Dose-limiting hepatotoxicity. NAb-positive patients excluded (~47%). Declining BBB crossing with age.

Intrathecal for older patients
Capsid: AAV9 or AAVhu68

Bypass BBB entirely. Lower dose (less hepatotoxicity). Proven IT route for CNS. AAVhu68 shows strong spinal MN transduction in NHP.

Limitations: Invasive procedure. Distribution may be uneven. Repeat dosing unclear (immune response to capsid).

AAV9-seropositive rescue
Capsid: AAVrh10

Lower seroprevalence (~30% vs 47%). Good CNS tropism. Could treat patients excluded from Zolgensma due to anti-AAV9 NAbs.

Limitations: Less clinical data than AAV9. Cross-reactivity possible.

MN Tropism: 82%
BBB Crossing: 70%
Immunogenicity: 30%
Manufacturing: 75%
Composite: 0.668
Dual-vector CRISPRi
Capsid: AAV9 (dual vector, split-intein dCas9)

Permanent epigenetic silencing of ISS-N1 — combines CRISPR guide (Phase 6.2) with AAV delivery. Split-intein approach fits dCas9 in 2 AAV vectors.

Limitations: Requires co-transduction of both vectors in same cell. Lower efficiency than single vector. No clinical precedent for CNS split-intein.

Muscle + CNS dual targeting
Capsid: AAV9 (CNS) + MyoAAV (muscle)

SMA is multisystem — motor neurons AND NMJ/muscle affected. AAV9 for neuronal SMN1 + MyoAAV for muscle-specific PLS3 or trophic factors.

Limitations: Two vectors = two manufacturing processes. Additive immune response. Complex regulatory pathway.

Capsid Rankings

#SerotypeMN TropismBBBImmunogenicityMfgPackagingScoreClinical Precedent
1PHP.eB95%95%25%55%EXCEED0.74Preclinical only. Mouse-specific BBB crossing via LY6A receptor. Does NOT translate to NHP/human.
2AAV990%85%47%85%EXCEED0.70FDA-approved: Zolgensma (onasemnogene abeparvovec) for SMA Type 1. >3,000 patients treated globally.
3AAVrh1082%70%30%75%EXCEED0.67Phase 1/2 for CLN2 (Batten disease), GM1 gangliosidosis. No SMA trials yet.
4AAVhu6880%75%35%70%EXCEED0.66Phase 1/2 for GM1 gangliosidosis (intracisternal). No SMA trials.
5AAV-PHP.S70%20%20%50%EXCEED0.52Preclinical only. Peripheral nervous system tropism.
6AAV540%30%25%90%EXCEED0.49FDA-approved: Roctavian (AAV5-FVIII) for hemophilia A. Not used for CNS.
7AAV-DJ45%25%40%80%EXCEED0.46Preclinical only. Shuffled capsid from AAV2/8/9.
8AAV150%15%55%90%EXCEED0.43FDA-approved: Glybera (lipoprotein lipase deficiency, withdrawn). Luxturna component.
9MyoAAV (2A/4A)30%10%20%55%EXCEED0.38Preclinical only. Engineered for skeletal muscle.
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