CHEARS

The recent news covering the information that a five months old baby in England and a three years old boy in Hyderabad battling a very rare disease the Spinal Muscle Atrophy(SMA) was buzzing everywhere. What made this go viral was not the rareness of this disease,but the cost of the drug ONASEMNOGENE ABEPARVOVEC sold under the brand name ZOLGENSMA which is used to treat this disease. Zolgensma is one of the most expensive drugs in the world. Before we learn about the cost and what actually is the drug, let's first know what SMA is.

SPINAL MUSCLE ATROPHY (SMA) :

SMA is a rare heriditary disease that deteriorates the neuromuscular functioning of the body by causing motor neurons loss. As the neurons control the muscle movement throughout the body, a lack of it could cause paralysis, severe muscle weakness and loss of movement.It is diagnosed predominantly in younger childern. The prevalance of this disease is estimated to be 1 in 10,000 children. SMA is categorised into two types - type1 and type2. The first type is more severe variant, causing rapid motor neuron loss and resulting in death or requiring permanent ventilation in more than 90% patients if left untreated. Type2 leads to mortality in more than 30%of patients by 25 years of age. Common symptoms of SMA are muscle loss,weaking after birth in infants, problem in swallowing,breathing and basic movements.

WHAT IS ZOLGENSMA ?

Zolgensma is an adeno-associated virus (AAV) based gene therapy medication used to treat SMA. It is used as one-time injection with atleast two months of corticosteroids. It is a biologic drug that's made from living cells. This drug, was first approved on May 24,2019 by the US Food and Drug Administration, and was approved by United Kingdom's National Health and Services(NHS) on March 9. 2020. It is manufactured by US-based Swiss bio-pharmaceutical company Novartis Gene Therapies. The cost of the drug is approx 18 crores per dose, and is one of the most expensive drugs in the world. This drug is a life changer for youngsters suffering with this disease.

HOW WILL ZOLGENSMA TREAT SMA ?

The SMA patients have a defect in gene known as SMN1,which the body needs to make a protein essential for the normal functioning of nerves controlling muscle movements. The active ingredient onasemnogene abeparvovec contains a replica of the missing gene, which when injected to the patient passes into the nerves and restores the gene, which then produces proteins necessary for nerve function and controlling muscle movement. The dose is determined by the weight of the patient. This drug is an one-time intravenous infusion which is administered to a patient for an hour. The infusion should take place in clinc or hospital under the supervision of doctor experienced in managing spinal muscle atrophy.

MOST IMPORTANT INFORMATION ABOUT ZOLGENSMA :

• ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury.

• Patients will receive an oral corticosteriod before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.

• Contact the patient's doctor immediately if the patient's skin and/or whites of the eyes appear yellowish, or if the patient misses a dose of the corticosteriod or vomits it up.

OBSERVATIONS REQUIRED BEFORE AND AFTER INFUSION OF ZOLGENSMA :

• Viral respiratory infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient's doctor immediately if you see signs of a possible viral respiratory infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.

• Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if the patient experiences unexpected bleeding or bruising.

• Thrombotic microangiopathy(TMA) has been reported to occur approximately one week after ZOLGENSMA infusion. Caregivers should seek immediate medical attention if the patient experiences any signs or symptoms of TMA, such as unexpected bruising or bleeding,seizures, or decreased urine output.

VACCINATIONS AND ZOLGENSMA :

• Protection against respiratory syncytial virus (RSV) is recommended.

• Talk with patient's doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.

PRECAUTIONS WITH THE PATIENT'S BODILY WASTE :

• Temporarily,small amounts of ZOLGENSMA may be found in the patient's stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.

SIDE EFFECTS OF ZOLGENSMA :

The most common side effects that occured in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.