WHAT DO WE KNOW ABOUT SMA TREATMENT?
Since the vital motor nerve cell (SMNA1) is mutated, the bodies of patients with SMA disease cannot produce enough motor nerve cell protein. Without this protein, motor nerve cells become smaller and smaller and eventually disappear. This condition causes weakness and fatal muscle weakness in patients.
One of the ways to treat SMA disease is to increase the amount of vital motor nerve cell protein in the body. This method of treatment is often referred to as SMN (motor nerve cell protein) based or SMN (motor nerve cell protein) development.
All patients with SMA disease have at least one or more vital motor nerve cell genes (SMN2), or SMA-support gene. SMN2 also produces the SMN protein for the body, but only a small percentage of this protein is used by the body.
Many SMN enhancement treatments are applied on the SMN2 gene to produce a more usable protein. Other SMN enhancement treatments are performed directly to correct or restore the mutated SMN1 gene.
Increasing the amount of SMA protein in the body is not the only method in the treatment of SMA disease. The reduction of vital motor nerve cell protein also affects other systems and processes in the body. Therefore, other treatments target these affected systems.
These treatments and approaches are often referred to as non-SMN (without SMN). Many of these treatments are aimed at the muscular system and nervous system.
Many medical researchers consider the combination of SMN-based and non-SMN treatment methods to be the most beneficial treatment for patients with SMA. This combination of therapies means that patients can sometimes take 2 drugs at the same time or one type of drug at a certain stage of the disease and a different type of drug at the other stage.
There is less consensus that combining two similar therapies, such as 2 SMA boosts or 2 non-SMA treatments, will provide an additional benefit to the patient.
THE IMPORTANCE OF EARLY TREATMENT
Regardless of the type of treatment chosen for the disease, it is very important for the patient to start treatment as soon as possible after the disease is diagnosed. This is especially important for SMN enhancement treatments. When SMN levels are low, motor nerve cells will weaken and eventually disappear. Children with SMA type 1 disease will lose 90% of their motor nerve cells by 6th months. Once these neurons are lost, they cannot be regenerated. In clinical trials of SMN-based therapies, individuals who started treatment earlier showed better results than those who started later.
Currently, there are 2 types of treatment approved by the FDA (American Food and Drug Administration). These two types of treatment include the method of developing SMN. In addition to these two approved types of therapy, 6 other types of therapy are being tested in clinical trials.
Except in some exceptional circumstances, a patient is generally not subjected to clinical trials or approved treatment. These exceptional cases include events such as co-administration of muscle drugs to patients undergoing approved SMN enhancement therapy. Except in these exceptional cases, the decision to participate in the clinical trial means that you or your child will be deprived of approved therapy.