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Optimizing Research Operations and Resource Utilization in ALS Care: Insights From the Tofersen Antisense
Alison Wheeler1, Kush Mehta1, Danica Sanders1
1Sean M. Healey and AMG Center for ALS and the Neurological Clinical Research Institute, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Muscle & Nerve
|June 13, 2026
Summary
This study shows that administering tofersen, a gene therapy for SOD1-ALS, via expanded access protocols is feasible and safe. The program facilitated early patient access to this novel treatment.
Area of Science:
- Neurology
- Genetics
- Pharmacology
Background:
- Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease.
- Superoxide dismutase 1 (SOD1) positive ALS accounts for a subset of cases.
- Tofersen is an emerging gene-targeted therapy for SOD1-positive ALS.
Purpose of the Study:
- To describe the clinical and operational experience of administering tofersen through expanded access protocols (EAPs) at a single academic medical center.
- To evaluate the feasibility and safety of early access to tofersen for patients ineligible for clinical trials.
Main Methods:
- Eleven individuals with symptomatic SOD1-positive ALS received monthly intrathecal tofersen via lumbar puncture.
- Treatment was administered through single-patient and intermediate-sized EAPs prior to FDA approval.
- Data collected included demographics, clinical characteristics, referral-to-treatment timelines, safety outcomes, and operational costs.
Main Results:
- Over a two-year period, 120 doses of tofersen were administered to 11 participants.
- The mean referral-to-first dose duration was 36 days.
- Tofersen was found to be safe and well-tolerated, with no serious adverse events related to treatment. Operational costs were supported by philanthropy and insurance, with the drug provided free of charge.
Conclusions:
- Implementing resource-intensive expanded access protocols for novel ALS therapies is feasible within an academic medical center.
- A mixed funding model, including philanthropy and insurance, can support early access to emerging treatments.
- This experience highlights a successful pathway for facilitating patient access to gene-targeted therapies like tofersen.
