₹33 crore needed for children suffering from hereditary spastic paraplegia

According to a BBC report, an extremely rare disease across the world has put the lives of many children in difficulty, with children losing their ability to walk and speak. This serious disease is called 'Hereditary Spastic Paraplegia Type 47', known in short as 'SPG47'. This disease has a serious impact on the functioning of children's brains and nervous systems. Children who have learned to walk and speak normally can also lose these abilities over time. Currently, a massive expenditure of approximately ₹33 crore (millions of dollars) is required for the treatment of this disease.

Speaking about the symptoms of this disease, experts state that it is primarily caused by a mutation in a gene called 'AP4B1'. In most children, the initial symptoms are seen before the age of one. Such children are much slower than other children in sitting, standing, or walking. They also face difficulty in learning to speak. By the age of four to six, abnormal stiffness is seen in their leg muscles. According to Dr. Darius Ebrahimi-Fakhari, an expert in the neurology department at Boston Children's Hospital, these children may need a wheelchair by the age of 10 or 11. So far, only about 130 cases have been officially recorded worldwide, but experts believe that thousands of people may be suffering from this disease who have not yet received a diagnosis.

Ana Popovic, the mother of a three-year-old girl named Nika who is a victim of this disease, says that her daughter is very cheerful, but her development is not happening according to her age. After migrating from Ukraine to the Czech Republic, Nika started having frequent epileptic seizures. After many tests, when a genetic test was conducted, it was diagnosed as SPG47. This disease is so rare that pharmaceutical companies are not interested in investing financially in its research and treatment. As a result, the parents of the affected children have taken up the task of raising funds themselves. They have formed an organization called 'Blackfin Bio', which is working to develop a potential treatment through gene therapy.

This organization estimates that more than 3,600 people worldwide may be living with this disease. Currently, the gene therapy treatment is ready for testing on children, but millions of dollars are needed to start this clinical trial. Through this investigation, it will be known how safe the treatment is for children and how much effect it has on the disease. If this effort is successful, it could bring a major change in the lives of these children. This fight by the parents has now become a ray of hope not only for their children but also for other children who may face this disease in the future. Dr. Ebrahimi-Fakhari emphasizes that scientific research is extremely necessary for the treatment of this disease, but the pace of research is slow due to a lack of funds.

Hereditary spastic paraplegia is a genetic disorder that primarily affects the nerves of the spinal cord and brain. In such disorders, muscle weakness and stiffness are considered the main symptoms. In the past, gene therapy was seen as a promising option for such rare diseases, in which an attempt is made to correct the defective gene. However, such research requires a very high level of technology and large-scale financial support, which is often not available in the case of rare diseases.