Osama Abu al-Rab-Doha
The State of Qatar has started providing the latest innovative gene therapy for children with hereditary spinal muscular atrophy at Hamad Medical Corporation.
Spinal muscular atrophy is a common genetic disease that affects children and affects nerve cells in the spinal cord in the spine. It appears as atrophy of the limb muscles with severe relaxation of the muscles of movement, breathing and swallowing.
Spinal muscular atrophy is caused by a mutation in a gene called SMN, which plays an important role in the front cells of the spinal cord, which control the movement of muscles in different parts of the body through nerve fibers.
When the frontal cells are atrophy, the muscles cannot move and become automatically atrophied by the disease. Regardless of the true role of the SMN protein, it is important for anterior cells to continue to function.
| The idea of the drug depends on injecting the patient with the original effective gene instead of the damaged gene (Hamad Medical Corporation) |
There are different types of spinal muscular atrophy, but the most prevalent type is severe, and its symptoms appear during the first six months of life.
Genetics
Spinal muscular atrophy is a disease that is transmitted by recessive heredity, when parents are carriers of the disease and not have it, making them 25% more likely to have an infected child.
Dr Tawfiq bin Omran, head of the genetics and genetics department at Hamad Hospital, said that the new treatment is a completely innovative technology, which is done by giving a spinal muscular dystrophy patient a one-time intravenous dose containing the healthy gene carried inside a vector. Vital, to do the damaged gene (inherited from parents) in producing the protein that the patient lacks.
| Dosage is strictly determined by patient weight (HMC) |
He added Dr. Bin Omran - in special statements to the island Net - that the patient turns into a person capable of producing protein naturally, and consequently a significant improvement in all functions of the muscles controlling breathing, movement and swallowing.
"The early treatment of the patient was extremely excellent," he said. "This innovative treatment has been granted permission from the US Food and Drug Administration to treat all types and conditions of spinal muscular dystrophy for all patients under the age of two."
Dr. Bin Omran said that Qatar is the second country outside North America to start using gene therapy for patients with spinal muscular atrophy, which was given to patients at Hamad Hospital, and is the most expensive medicine in the world to cost $ 2.2 million per dose.
In his statement of the idea on which treatment depends, how is it used? How often is it used? He said that the idea of the drug depends on injecting the patient with the original effective gene instead of the damaged (ineffective) gene inherited from the parents of the carriers of the disease, by placing the active gene in a biological carrier (a virus empty of its content and does not cause any disease or infection) once In the patient's life.
| Dr. Bin Omran: Complete Blood Analysis of the Patient and Antibody Carrying of the Healthy Gene Virus (Hamad Medical Corporation) |
He explained that a full blood analysis of the patient, and analysis of antibodies to the virus carrying the healthy gene that is injected to the patient to ensure that it is healthy and does not carry any antibodies, to ensure the effectiveness of treatment.
Asked: What are the expected results of using this treatment? When will the patient assessment begin? The medication compensates for the main genetic defect of spinal muscular dystrophy, not just adjunctive therapy.Therefore, the patient is able to produce the basic protein that stimulates muscles to move, and the improvement of the patient within one month of treatment can be observed significantly from improved movement, breathing and recovery.
protection
Dr. Reem Al-Sulaiman, Deputy Director of Genetics and Genetics at Hamad Hospital, Hamad Medical Corporation, said that prevention is better than cure. There are different methods to prevent spinal muscular dystrophy, including the prenuptial examination available in Qatar. On screening for spinal muscular atrophy, so that couples can find out if they are likely to have a child with spinal muscular atrophy.
| Dr. Reem Al-Sulaiman: The disease can be avoided by providing a thorough gene screening for those with a family history of spinal muscular atrophy (Hamad Medical Corporation) |
Dr. Reem said in a statement to Al Jazeera Net that the disease can also be avoided by providing a thorough gene screening for those with a family history of spinal muscular dystrophy, and to avoid having a child infected by IVF technology, so that embryos are examined outside the uterus for the mutation causing atrophy Spinal muscles, in order to avoid having an infected child.
She concluded by saying that awareness in the community of spinal muscular dystrophy and prevention methods are better than treatment, to help avoid the disease and ensure the safety of the community.