Clinical Trial Alert: Phase 3 Study of Tofersen in Presymptomatic Adults with SOD1 mutation

Researchers at Biogen are seeking adults with a certain confirmed mutation in the superoxide dismutase 1 (SOD1) gene, who are not yet experiencing symptoms of ALS, to participate in a phase 3 clinical trial (ATLAS) to evaluate the safety, effectiveness, and pharmacological properties of the investigational therapy tofersen in a presymptomatic population. In April 2023, tofersen (brand name Qalsody) received accelerated marketing approval for the treatment of amyotrophic lateral sclerosis (ALS) associated with mutation in the SOD1 gene (SOD1-ALS). The current studying is testing the ability of tofersen to delay the onset or progression of ALS in people who are risk of developing disease, but have not yet shown any symptoms.

This is a phase 3, multi-part study. The sponsor is currently recruiting for part A, in which eligible participants will not receive the study drug, but will be monitored to establish natural history of their condition. The study team will evaluate blood samples from monthly home-visits for levels of a particular blood biomarker (neurofilament light chain (NfL)). If a participant’s NfL level is above a predetermined threshold, they can be considered for eligibility for next part of the study (part B), in which they may receive tofersen as part of a placebo-controlled trial period. Part A may last up to approximately four years and three months and require 2-3 clinic visits, as well as monthly at-home visits.

Participants that continue to subsequent phases of the study will receive tofersen or a placebo control via lumbar puncture into the spine. The effects of tofersen may be evaluated using a number of tests and procedures including but not limited to: blood sample collection, urine sample collection, health questionnaires, vital sign measurements, electrocardiogram, lumbar puncture, electromyography, neurological exam, physical exam, and clinical function assessments.

To be eligible, individuals must meet the following inclusion criteria:

• Able to understand the study, provide informed consent, and authorize use of confidential health information in accordance with national and local privacy regulations
• Age 18+ years old
• Medically able to undergo the study procedures and to adhere to the visit schedule
• Documented disease-causing mutations in the superoxide dismutase 1 (SOD1) gene
• Plasma NfL level < 44 pg/mL during screening
• Clinically presymptomatic for ALS

Individuals may not be eligible to participate if they are affected by another illness or receiving another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Assistance with travel and accommodations, and reimbursement for study-related expenses, may also be available.

To learn more about the study or inquire about participation, please visit the study website or contact the study coordinator Gigi van den Hoef by phone: 613-227-3170 or email: gigi.vandenhoef@iqvia.com.