This article “Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy” studies the mutated gene encoding spinal muscular atrophy type 1 or SMA1 and the functional replacement of it. Fifteen infants where each given doses intravenously containing the SMN protein to see if they achieved a higher rate of survival than those without the SMN protein. Three of the fifteen patients were given low doses of the protein while the remaining twelve were given high doses of the protein. At 20 months of age all patients were alive and healthy compared to 8% from a previous historical study. For infants with spinal muscular atrophy type 1 the intravenous infusion of the SMN protein led to patients achieving a more functional life thanks to the gene therapy provided. They reached motor milestones quicker with the gene therapy.
This study was done to see if infants can live better lives with SMA1 as it results in a loss or dysfunction of bodily movement, so gene therapy is utilized to subside the adverse effects of the disease. The protein was delivered in normal saline throughout a period of 60 minutes with patients studied months after their dose was given. After a while of the doses being administered to each of the fifteen infants a large majority of them no longer needed mechanical ventilation. All patients had increasing scores relative to their health that were attained and sustained over the months that the study took place. Patients could sit, eat, and talk and lived on average healthier lives than those without the SMN protein.
A majority of the patients were free from nutritional support with continuously increasing scores. Patients also did not need ventilatory support. Motor neurons were intact and motor function increased. Two of the fifteen patients were able to crawl, stand, and walk during early stages of the treatment.
All patients included in the study were symptomatic for spinal muscular atrophy type 1. This was necessary to ensure that the patients were included in the study as the disease commonly has a history of being lethal. The one-time intravenous infusion helped all patients tremendously with no serious side effects noted at the time of the study.
This is a primary research article as it focuses on original and new findings, is peer-reviewed, and also is scholarly and prestigious. This article plainly ties in with genetics. Genetics is the study of organism’s heredity and inherited characteristics, studied at both a microscopic level and a macro level. Spinal muscular atrophy type 1 is a rare monogenic disease that affects a specific gene in the human body.
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