A new clinical trial that aims to assess the safety and efficacy of gene therapy with intravenous EXG001-307 in patients with spinal muscular atrophy (SMA) is in the recruitment phase.

The multicenter, nonrandomized, open-label, dose-escalation clinical trial aims to enroll 12 participants with a confirmed SMA diagnosis through a bilaterally allelic survival motor neuron protein gene mutation. All patients must be 7 months of age or under at the time of treatment initiation.

Exclusion criteria include gestational age at birth under 35 weeks, current use of assisted ventilation, the presence of acute viral or bacterial infection, cardiac disease or clinically significant electrocardiogram abnormalities, a history of hypersensitivity to corticosteroids, concomitant use of immunomodulatory drugs, clinically significative laboratory abnormalities, and previous use of SMA-specific therapy.

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Enrolled patients will receive 3 escalating doses of complementary DNA encoding the human survival motor neuron (SMN) protein through an adeno-associated virus vector. Doses will be administered through a peripheric vein. Safety will be assessed with monthly follow-up visits for 18 months. Efficacy will be assessed when patients reach 18 months of age.

The primary endpoint of the trial is the safety and tolerability assessed through the presence of adverse effects and significant adverse effects. Each follow-up visit will include a complete physical and neurological examination, extensive laboratory testing, and at least 12 electrocardiograms.

Secondary endpoints include survival at 14 months, defined as the number of participants that did not die at 14 months of age and did not require permanent ventilation at this age, as well as the number of patients who were able to sit for 30 seconds or more without using arms or hands to balance body or support position.

Current pharmacological therapies available for SMA have proven to be ineffective in reversing disease progression, and only supportive care is available. 

The expected completion date is March 2025.


Clinical trial to assess the safety and efficacy of EXG001-307 in patients with spinal muscular atrophy type 1. ClinicalTrials.gov. November 14, 2022. Accessed November 24, 2022.