Gene Therapy in SLC13A5 Deficiency, DMTs Reduce Risk of Disability in Pediatric MS, FASTEST Phase 3 Study Announced


Neurology News Network for the week ending May 15, 2021.

This week Neurology News Network covered the preclinical data of scAAV9 gene therapy and its positive effects on SLC13A5 deficiency, as well as a study looking at the improvements of disability in patients with multiple sclerosis treated with disease-modifying therapeutics, and the details behind the FASTEST study, which will assess the effects of experimental drug recombinant Factor VIIa.

Welcome to this special edition of Neurology News Network. I’m Marco Meglio. Please excuse our appearance this week as a majority of the US workforce, including the NeurologyLive team, moves to working remote as we come together to help reduce the spread of the novel coronavirus.

Data from a preclinical study of mouse models presented at 2021 American Society of Gene & Cell Therapy (ASGCT) Annual Meeting, showed that scAAV9 gene therapy could provide a meaningful benefit to patients with SLC13A5 deficiency. SLC13A5 deficiency, an autosomal recessive disorder, is due to mutations in the SLC13A5 gene, which codes for a plasma membrane sodium-dependent citrate transporter. There are currently no treatments available that target the underlying cause of the disease. Both knockout mice and wild type littermates were treated with the gene therapy through IT delivery or ICM delivery at 10-12 weeks of age and were monitored for weight and survival. At 1-month post-treatment and beyond, KO mice treated with the gene therapy had significantly decreased plasma citrate levels compared to KO mice treated with vehicle which showed sustained, high citrate levels.

A recently published study’s findings suggest that the improvements in disease-modifying therapeutics (DMTs) and management standards have led to the reduction of the risk of persistent disability for individuals with pediatric-onset multiple sclerosis (MS) by 50% to 70%. The results imply that an increase in approved DMTs prior to age 18 and continuous upgrades to management tactics can further advance prognosis for this patient population. In a cohort of more than 3100 patients with pediatric-onset disease, the cumulative risk of reaching disability milestones decreased gradually over time for Expanded Disability Status Scale (EDSS) scores of both 4.0— implying significant disability but self-sufficiency and an ability to be up and about for about 12 hours per day— and 6.0—implying the requirement of a walking aid such as a cane or crutch.

A new multi-center, randomized, phase 3 study will assess the effects of experimental drug recombinant Factor Vlla (rFVllA) on intracerebral hemorrhage. The study, “Recombinant Factor Vlla (rFVlla) for Acute Hemorrhagic Stroke Administered at Earliest Time,” also called FASTEST, is funded by the National Institutes of Health (NIH) and will be conducted at North Shore University Hospital by Northwell Health’s Institute for Neurology and Neurosurgery and The Feinstein Institutes for Medical Research. The study will enroll adults between the ages of 18 and 80 years with ICH. rFVllA will be administered within 2 hours of stroke onset. Patients may be enrolled without consent if unconscious and a family member or other representative is not readily available, as ICH requires immediate treatment. Every attempt will be made to locate family to give consent.

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