அனைவருக்கும் வணக்கம், நான் மருத்துவர் வினோத்குமார் MBBS MS.
SMA நோய் பற்றி பலரும் தங்களுடைய சந்த்தேகங்களை கேட்டிருந்தார்கள்.
இந்த பதிவில் SMA நோயின் வகைகள் மற்றும் அதற்கான மருந்துகள் பற்றி விளக்கியுள்ளேன்.
இந்தியாவில் அனுமதி பெற்றுள்ள மருந்துகள் என்ன ?
இந்த மருந்துகளின் விலை எவ்வளவு ?
இந்த மருந்துகளின் Side-effects என்ன ?
SMA is a hereditary disease that causes weakness and muscle wasting because patients lose lower motor neurons (nerve cells) that control movement.
Spinal muscular atrophy (SMA) is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Doctors usually diagnose SMA after a child has muscle weakness and decreased muscle tone.
If your clinician suspects SMA, they may use the following tests to diagnose the condition:
genetic blood tests, which can confirm the diagnosis of SMA
an electromyography (EMG) test that measures the electrical activity of a muscle or a group of muscles (in some cases)
a creatine kinase (CPK) test (to distinguish from other types of neuromuscular diseases, if necessary)
What are the treatment options for spinal muscular atrophy?
As yet, there is no complete cure for SMA. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA - a gene replacement therapy called Zolgensma, and two drugs, called nusinersen (Spinraza) and risdiplam (Evyrsdi). All three treatments were tested in clinical trials at Boston Children’s Hospital and elsewhere prior to their approval by the U.S. Food and Drug Administration (FDA).
You and your child’s care team will decide together the most appropriate treatment plan based on several factors:
your child’s age, health, and medical needs
SMA type
extent and type of symptoms
ability of your child to tolerate procedures and treatments
family preferences
Nusinersen (Spinraza)
The first drug treatment for SMA.
Due to the success of clinical trials, the FDA approved the use of nusinersen for SMA in children and adults in 2016, and we began offering the drug to all eligible SMA patients. Our multispecialty SMA team helped to develop standardized ways to measure patients’ SMA symptoms and the changes in these symptoms over time. These results are being used to measure the effectiveness of nusinersen and other treatments.
Gene therapy for SMA (Zolgensma)
It provide the first gene replacement therapy approved by the U.S. Food and Drug Administration (FDA) for children with SMA younger than age 2 years - a promising treatment that delivers functional copies of the mutated gene to affected cells.
Risdiplam (Evrysdi)
Since 2016, Boston Children’s Spinal Muscular Atrophy Program has been actively involved in the key clinical trials for risdiplam (brand name Evrysdi), the first oral drug treatment for SMA. Risdiplam is the third treatment for SMA and was FDA approved in 2020 for use in children 2 months and older.
FIREFISH trial provided some of the clinical information leading to ridsiplam’s FDA approval. This trial, and others we participate in, will continue to investigate risdiplam in participants for several years.
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