Sunday September 15, 2019

Most Expensive Medicine Treats Rare Inherited Disease for $2M

The medicine, sold by the Swiss drugmaker Novartis, is a gene therapy that treats an inherited condition called spinal muscular atrophy

expensive medicine
FILE - The logo of Swiss pharmaceutical company Novartis. VOA

U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby’s muscle control and kills nearly all of those with the most common type of the disease within a couple of years.

The treatment is priced at $2.125 million. Out-of-pocket costs for patients will vary based on insurance coverage. The medicine, sold by the Swiss drugmaker Novartis, is a gene therapy that treats an inherited condition called spinal muscular atrophy. The treatment targets a defective gene that weakens a child’s muscles so dramatically that they become unable to move, and eventually unable to swallow or breathe. It strikes about 400 babies born in the U.S. each year.

The Food and Drug Administration on Friday approved the treatment, called Zolgensma, for all children under age 2 who are confirmed by a genetic test to have any of the three types of the disease. The therapy is a one-time infusion that takes about an hour.

Novartis said it will let insurers make payments over five years, at $425,000 per year, and will give partial rebates if the treatment doesn’t work.

The one other medicine for the disease approved in the U.S. is a drug called Spinraza. Instead of a one-time treatment, it must be given every four months. Biogen, Spinraza’s maker, charges a list price of $750,000 for the first year and then $350,000 per year after that.

expensive medicine
FILE – This Oct. 14, 2015, photo shows the Food and Drug Administration campus in Silver Spring, Md. VOA

‘Dramatically transforms’ lives

The independent nonprofit group Institute for Clinical and Economic Review, which rates the value of expensive new medicines, calculated that the price of the new gene therapy is justifiable at a cost of $1.2 million to $2.1 million because it “dramatically transforms the lives of families affected by this devastating disease.”

ICER’s president, Dr. Steven D. Pearson, called the treatment’s price “a positive outcome for patients and the entire health system.” The defective gene that causes spinal muscular atrophy prevents the body from making enough of a protein that allows nerves that control movement to work normally. The nerves die off without the protein.

In the most common type, which is also the most severe, at least 90% of patients die by age 2, and any still alive need a ventilator to breathe. Children with less-severe types become disabled more slowly and can live for up to a couple decades.

Zolgensma works by supplying a healthy copy of the faulty gene, which allows nerve cells to then start producing the needed protein. That halts deterioration of the nerve cells and allows the baby to develop more normally.

In patient testing, babies with the most severe form of the disease who got Zolgensma within 6 months of birth had limited muscle problems. Those who got the treatment earliest did best. Babies given Zolgensma after six months stopped losing muscle control, but the medicine can’t reverse damage already done.

expensive medicine
The medicine, sold by the Swiss drugmaker Novartis, is a gene therapy that treats an inherited condition called spinal muscular atrophy. Pixabay

Success story

Evelyn Villarreal was one of the first children treated, at eight weeks. Her family, from Centreville, Va., had lost their first child to spinal muscular atrophy at 15 months. Two years later when Evelyn was born a test showed she also had the disease, so the family enrolled her in the gene therapy study at Nationwide Children’s Hospital in Columbus, Ohio.

Evelyn is now 4½ years old and showing no muscle problems other than minor trouble standing up, said her mother, Elena Villarreal. She has been feeding herself for a long time, she draws and speaks well, and will be starting kindergarten in the fall. “She’s very active and goes to the playground a lot,” said Elena Villarreal. “She’s walking and even jumping.”

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It is too early to know how long the benefit of the treatment lasts, but doctors’ hopes are rising that they could last a lifetime, according to Dr. Jerry Mendell, a neurologist at Nationwide Children’s. Mendell led one of the early patient studies and is Evelyn’s doctor. “It’s beginning to look that way,” he said, because a few children treated who are now 4 or 5 still have no symptoms.

Early diagnosis is crucial, so Novartis has been working with states to get genetic testing for newborns required at birth. It expects most states will have that requirement by next year. The FDA said side effects included vomiting and potential liver damage, so patients must be monitored for the first few months after treatment. (VOA)

Next Story

Transfusion Medicine: Blood Banks, Donation FAQs, and Benefits

Doctors at the Department of Transfusion Medicine, Nayati Healthcare, share insights on Blood Donation

Transfusion, Medicine, Blood
Transfusion medicine deals with the study of blood and its associated components as a part of R&D and treatment in the field of Hematology. Pixabay

Transfusion medicine deals with the study of blood and its associated components as a part of R&D and treatment in the field of Hematology. Unlike many other medical procedures, transfusion is a multi-level process. After a person is screened for the ability to donate, his blood is tested for abnormalities and stored safely so that, it can be used by any patient depending upon his blood group and unit requirement. Since critical cases require multiple blood units at short notice, blood banks are set up to help patients at any given point of time. 

Blood Banks 

Blood banks store different types of blood at regular intervals as they factor in the emergency requirement of their hospital or any nearby clinic. Each unit of the donated blood is divided into at least three parts: Plasma, Red Blood Cells (RBCs), and Platelets. These parts can be stored for up to one year, 42 days, and five days respectively. 

Transfusion, Medicine, Blood
After a person is screened for the ability to donate, his blood is tested for abnormalities and stored safely.

People often hesitate to donate blood due to the common myth that their blood is not stored properly and hence, goes to waste. This is due to lack of information. Platelets are wasted in some of the cases, due to short storage life. However, RBCs are instrumental in saving countless lives during the period of storage. Besides, plasma is used to manufacture medicines that usually have to be imported in India. Such optimal utilization helps the hospitals to reduce the cost for patients themselves and enables them to handle critical cases easily. 

Blood banks can effectively serve their purpose with the corresponding participation of young citizens. Dr Naveen Agnihotri, Sr. Consultant & HOD – Blood Bank & Transfusion Medicine Nayati Healthcare, states that due to minimal sensitization and lack of exposure, many people living in tier-2, tier-3 cities are not aware of how, when, or who can donate blood. And considering the rising number of accidents and critical medical cases in the country, citizens need to step forward, get their queries resolved, and contribute towards this noble cause. 

Donation FAQs

Q) Who can donate blood?

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Anybody between the age group of 18 to 60 is eligible for donating blood. However, doctors perform specific medical checkups to identify if the individual is fit to donate blood. While height is not a major consideration in the process, the weight of the donor must be above 45 kg.

A person who is more than 60 years but less than 65 years of age, can also donate blood provided he/ she has donated at least once earlier.

Q) How much blood is extracted during a donation?

Every individual has average 3.5-5 liters of blood in the body out of which 350 to 450 ml is extracted based on his/her weight and fitness level. The volume of extracted blood is recovered within 24 hours.

Transfusion, Medicine, Blood
Unlike many other medical procedures, transfusion is a multi-level process. Pixabay

Q) Is there any adverse effect on my health after donation?

No, there is no adverse effect on the donor’s health as the human body has a big reserve and a fast regeneration process. Doctors at Nayati Healthcare recommend the donors to consume good amount of fluids within 24 hours of the donation. Every donor has to wait for at least three months before donating blood again. 

Benefits of blood donation 

Apart from making the difference between the life and death of a patient, listed below are the other major benefits of blood donation:

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  • Awareness about one’s fitness
  • Reveals hidden/prolonged medical conditions such as Hepatitis B and Hepatitis C that are usually not diagnosed in routine blood tests
  • Blood rejuvenation, which enhances psychological satisfaction and happiness
  • The feeling of helping another human being to live a healthy life boosts the donor’s morale

Key contributions by Nayati Healthcare

According to a 2017 survey conducted by the Government of India, Uttar Pradesh ranks the lowest in terms of blood collection and voluntary donation. To improve these conditions, Nayati Healthcare is the first hospital in Uttar Pradesh (outside Delhi NCR) to have a NABH accredited blood bank, which serves as a testament to its quality. Nayati Healthcare is also capable of performing transplant operations that require blood plasma exchange. Furthermore, Nayati’s Blood Bank regularly provides nearly 5 to 10 percent blood, including plasma and platelets to nearby clinics and charitable hospitals at discounted rates and without any requirement for donation by the relatives. 

Also, Nayati Healthcare played a crucial role in saving the life of a patient at AIIMS, Jodhpur by transporting a unit of rare Bombay blood group to the hospital. 

Due to Nayati Healthcare’s location near National Highway, the 24×7 blood bank is one of the most vital components in the treatment of trauma patients. According to a doctor at the hospital, nearly 70-80 units of blood are used in trauma cases every month. Apart from this, countless lives are saved in cases involving pregnancy emergencies, PPH or ruptured uterus is easily treated within the recommended time frame. In this way, Nayati Blood Bank is playing a crucial role in saving lives of road traffic accident victims, mothers and newborn babies in the region.

Nayati Blood Bank Department has started training doctors from June 2019 in the field of Transfusion Medicine by offering DNB degree (a degree equivalent to MD). Nayati is one of the 7 centers in the country to offer DNB in Transfusion Medicine, to cater to the shortage of trained manpower in the field.

As transfusion medicines continue to play an important role in the treatment of patients, hospitals such as Nayati Healthcare continue to increase the awareness about the noble deed of blood donation via regular outdoor donation camps, providing life-saving blood and treatment as well as increasing the trained manpower in the hinterland of the country.