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On November 2, 2017, a day destined to be in the history of gene therapy. On this day, NEJM (New England Journal of Medicine) published a landmark clinical outcome in the form of a headline: Gene therapy successfully extended 15 patients with severe hereditary disease - type 1 spinal muscular atrophy (SMA1) The life of the child gives the patient a chance to regain health! Both SMA and SCA have high hereditary diseases. In order to give birth to healthy babies, pregnant mothers do genetic testing of SMA and SCA before birth to avoid the risk of postpartum children. Micro-genetic companies have established a very complete experimental protocol for the detection of SCA genes. For common SCA3, 2, 12, accurate typing can be verified; for SCA8, 10, 36 normal samples can be accurately identified. Read micro-genes, save time and worry!
Now, Evelyn is almost 3 years old. Although she can't run and jump normally, she can already walk, dance and play. This is a great comfort for her parents.
1, SMA1 children usually do not live 2 years old
SMA Spinal Muscular Atrophy is a rare motor neuron disease that causes muscle weakness and atrophy, triggered by a mutation in the motor neuron survival gene 1 (SMN1). This single-gene mutation causes the deletion of its encoded protein, SMN (the essential protein that sustains the survival and development of motor neurons), which causes neuronal atrophy, death, and ultimately loss of muscle weakness, bone deformation and other functions.SMA is divided into 4 types according to age of onset and motor function. Among them, type 1 SMA occurs in infancy, and it is often characterized by inability to sit alone, difficulty swallowing, and loss of motor function. Unfortunately, this incidence is about one in 10,000. There is no effective and fundamental treatment for genetic diseases. Children usually do not live 2 years old, or they are completely dependent on respirators at the age of 2 years.
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2. The first gene therapy for treating SAM
Now, the first clinical trial of SMA, conducted by the Children's Hospital of America, AveXis, and the Ohio State University School of Medicine, has brought new hope to everyone! After 30 years of basic research, scientists have successfully developed gene therapy (AVXS-101) that replaces the mutated gene, which can compensate for the lack of SMN protein (the essential protein for neuronal survival) in patients. In 2016, AVXS-101 was recognized by the FDA for breakthrough therapy.Specifically, they are related to a modified version of the adenovirus vector 9 (adeno-associated virus serotype 9 , AAV9) as a carrier, by intravenous injection method normal SMN gene delivery to the patient 15. Of these, 3 patients received low-dose treatment and 12 patients received high-dose treatment. It is worth noting that this vector can cross the blood-brain barrier and directly transfer genes to motor neurons. At the end of the clinical phase I trial, all patients who underwent treatment had crossed the 20-month life-and-death cycle and performed well in terms of safety and tolerability. Moreover, the motor function of the 12 patients in the high-dose group was significantly improved: 11 people regained the ability to control the head, 9 people were able to turn over themselves, and 11 people could sit in the assist. More importantly, 75% of patients can sit for more than 30 seconds. In addition, two patients were able to crawl, stand, and walk independently.
As of August 7, 2017, 11 high-dose groups were able to speak and swallow normally, and 7 patients no longer needed a respirator. This is unique in the history of SMA treatment.
“We are pleased to see that all children who receive AVXS-101 treatment are alive and do not need a respirator at the age of 20 months and older.†Dr. Allan Kaspar, Chief Scientific Officer of AveXis, stated, “AVXS-101 It will be an important achievement in changing the status quo of the disease."
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3. Fundamental changes
Last month, an independent panel of US FDA unanimously approved the gene therapy LUXTURNATM (voretigeneneparvovec, developed by Spark Therapeutics for the treatment of a hereditary retinopathy) with a 16:0 vote, making it the first US to correct defects. Gene therapy has greatly ignited the craze for the gene therapy market.The first clinical trial for SMA once again showed the potential of gene therapy. More importantly, it demonstrates the feasibility of high-dose viral vectors for the treatment of neurological diseases, and is expected to advance new attempts at other neurological and muscular diseases such as Parkinson's and giant axonal neuropathy.
A spokesperson for AveXis said their new facility near Chicago will be able to produce the preparations needed to treat SMA1 (500) born annually in the US and Europe. At present, AveXis has not yet priced the AVXS-101, but it still cannot escape the fate of "high drug prices."
Jerry Mendell, Principal Investigator at the Children's Hospital Gene Therapy Center, said: " Genetic therapy is not a mild improvement, but a fundamental change."
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References: 1) Gene therapy's new hope: A neuron-targeting virus is saved
2) Encouraging data for gene replacement therapy for SMA type I, phase 1 study shows
Source: Bio-Exploration
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