FAQs about SMA & therapy

In text below, you can find answers to following questions:

Q1. How is Anika today?

Q2. What is Zolgensma? How does it compare with Spinraza?

Q3. Is Zolgensma the cure for SMA?

Q4. Why Zolgensma only now?

Q5. Does Zolgensma have to be administered before the 2nd birthday?

Q6. Why does the family have to pay for the treatment themselves? Don’t they get help in the healthcare system?

Q7. What are the long-term effects of Zolgensma? What can we hope for Anika?

Q1. How is Anika today?

Anika’s motor skills have started to improve slowly on Spinraza. Today her situation is that of course she cannot walk, crawl or come to sitting and lying position, but she can sit upright and stand with support.

What worries us the most is the continued deterioration in her respiratory and swallowing functions. She has difficulties swallowing so she is on the tube feed and must also be regularly sucked in the mouth to avoid her airways being blocked with her own saliva. It seems that in Anika´s case, the treatment with Spinraza is not going in the right direction in regards to the vital functions -her swallowing and breathing. And with SMA type 1, the situation can become critical again in an instance – like the family faced a year ago. Right after her first birthday, Anika had a respiratory illness that progressed to pneumonia. Her condition deteriorated rapidly and she barely stayed alive.

When asked what Anika’s current condition is, parents like to say that she is stable – neither good nor bad. They feel the stress every moment of fighting this cruel disease and not knowing what the next week, next day or even the next hour will bring. That is why Anika´s parents, as any other parents,  have to do everything possible now to give Anika the best chance for a good life, before it’s too late. Anika has a lot of spirit and joy in her eyes, and she is full of love and just hugs everything around her. It looks as if she’s telling us that she wants to live and that she wants to fight. And we will fight alongside her against SMA.

With this gene therapy, there is reasonable hope that she will be able to build muscle, to eat and breathe normally and hopefully also to walk normally or next to normal.

Q2. What is Zolgensma? How does it compare with Spinraza?

Zolgensma is a gene therapy that targets the cause of Spinal Muscular Atrophy. It replaces the missing SMN1 gene and gives the motor neurons the SMN protein that they need to survive. The treatment is given through an intravenous injection and is given only once in a lifetime. It works both in the central nervous system and peripheral organs (liver, heart, lungs etc.).

Spinraza was the first approved treatment for SMA and saved the lives of thousands of children all over the world, including Anika’s. As of today, it is the standard treatment in most European countries. It works through the backup gene, SMN2 to produce normal SMN protein. It is injected directly into the spine and works only in the central nervous system. It has to be given 4 times during the first 2 months (loading doses) and then once every 4 months (maintenance doses) for life. Although the drug itself is safe, the administration of lifelong lumbar punctures have significant risks to nerve damage, spinal headaches, radiation exposure etc. This is a very burdensome process for the child, the parents and also the medical system.

Spinraza’s effect, in Anika´s case, seems to be mainly in motor skills development, but little in terms of respiratory and swallow functions. Zolgensma’s effect seems to go into every part of the body due to its systemic nature. So it works slightly better than Spinraza for motor skills and significantly better for respiratory and swallow functions. Based on the available data, it is incorrect to say that Zolgensma and Spinraza have the same effects for a SMA type 1 child.

The report published by the European Medicines Agency (EMA), which approved Zolgensma for use in Europe says: “Although another available treatment option is nusinersen (Spinraza), nusinersen treatment is associated with significant burden for the patient since it requires lifelong intrathecal injection (injection into spine), associated with safety risks. It is agreed that the data from Zolgensma assessed so far strongly suggests that the efficacy of Zolgensma in the intended patient population will exceed that of nusinersen (Spinraza). In addition, it is considered that given the difference in mechanism of action between nusinersen (Spinraza) and Zolgensma, Zolgensma is expected to be more efficacious in patients with 2 SMN2 copies since nusinersen (Spinraza) boosts the transcription of full-length protein from the SMN2 gene. Therefore, a major therapeutic advantage for Zolgensma is to be expected.” Page 147.

https://www.ema.europa.eu/en/documents/assessment-report/zolgensma-epar-public-assessment-report_en.pdf

Children with SMA type 2 generally have better respiratory and swallow functions compared to SMA 1. It is unfair to compare the effect of Spinraza on children with SMA type 2 with the effect on children with SMA type 1, which is the most severe form of the disease. In the natural course of the disease in SMA type 1, swallowing begins to weaken usually around the first birthday. This was the case with Anika as well – an indication that Spinraza does not help Anika in that respect. If we want to stop the progression of Anika´s disease and restore the weakened functions, we must find access to a more efficient treatment. There are examples that show that Zolgensma can do that! Even though every form of SMA is scary, comparing a child with SMA 1 with a child with SMA 2 does not make sense, when it comes to the effectiveness of therapy or life-threatening effects of disease. While Zolgensma might be Anika´s only chance to stop life-threatening effects of SMA on her breathing and swallowing, Spinraza is still very good medicine that has saved many lives and brings increased life quality to many children and adults with different types of SMA.

Q3. Is Zolgensma the cure for SMA?

Whether Zolgensma is a cure or not is difficult to answer. Children who receive Zolgensma before their symptoms appear develop like normal children. So, for these presymptomatic children, Zolgensma works like a cure. Children who are treated after their symptoms appear, sometimes achieve normal development, but it doesn’t apply for every child. In all cases, Zolgensma seems to produce positive results, but to different magnitudes. Therefore, we like to call Zolgensma an “almost cure”. The best known example is Mady from Minnesota in the USA. She was symptomatic and received Zolgensma the day before her second birthday, and is growing like a normal child now. 

Q4. Why Zolgensma only now?

At the time of Anika’s diagnosis, she was already so weak that every day was important and she needed to start with Spinraza, the only available treatment at that time, as soon as she was diagnosed. Once she started with Spinraza, she was no longer a candidate for potentially being included in the clinical trial for Zolgensma that was testing the medicine at that time. Thanks to Spinraza, Anika is still with us, but we are afraid that it will not be able to save her life in the long run because of continued deterioration in swallowing and breathing functions.

After Zolgensma’s approval in the USA, family tried to move to the US. This would have allowed Anika to receive Zolgensma through health insurance. After several months, the request for the transfer was rejected. So the second door also closed.

Family then tried to move to Germany, 200 km south of where they lived. A few children were dosed with Zolgensma there in late 2019. Since Serbia is not a member of EU the transfer again had many obstacles and the third door closed.

In December 2019, Novartis announced a global managed access program in the form of a lottery. Parents thought this was Anika’s last chance to receive Zolgensma. Unfortunately, most European countries refused to participate in the GMAP due to the ethical aspect of lottery. Fourth door also closed.

When parents were ready to give up their dream, they got a new unexpected ray of hope after Zolgensma’s approval in Europe. EMA authorized the treatment in May 2020 based on weight, up to 21 kgs, instead of age. Anika is above 2 years now, but she has 12,6 kgs. So she’ll be eligible to get Zolgensma in Europe.

More good news arrived in the recent weeks. We heard about successful fundraising campaigns in Belgium, Netherlands, Hungary, Russia, Romania, Poland, Slovenia and Turkey – where whole countries came together to give the gift of life to several babies suffering from the same disease as Anika. Parents are again inspired to do anything and everything for their daughter and we’ve hope in our heart that they will succeed!

Q5. Does Zolgensma have to be administered before the 2nd birthday?

No. In May 2019, the Food & Drug Administration (FDA) approved Zolgensma in the USA for children up to the age of 2. So, all the children dosed until about July 2020 were less than 2 years old, following the FDA guidelines. This was also true for children dosed outside of the USA.

The EMA approval in Europe changed the criteria. Now, the primary cutoff in Europe is weight, rather than age. Although EMA approved Zolgensma for children up to 21 kgs (regardless of age), a consensus statement from leading pediatric neurologists in Europe mentions 13.5 kgs as the normal upper limit, and in exceptional circumstances, children above 13.5 kgs can also receive Zolgensma. Anika is 12,6 kgs now.

In the last couple of months, several children in the age group 2-4 years weighing up to 15 kgs have been dosed in Germany – where Zolgensma is available for all residents in the country.

Parents are already in contact with hospital in Hungary who agreed to give Zolgensma to Anika once the funds have been raised. The hospital is very experienced with the administration of Zolgensma and has already dosed about 10 children from Hungary, Slovakia, Netherlands, Romania etc.

The urgency to raise funds is because of 2 reasons.

The first being the fear that Anika’s condition may get worse while she is waiting for Zolgensma. SMA is a vicious disease and sometimes the condition of a child can drastically worsen overnight. One day the child is stable and cheerful, the next day he/she is in the hospital on ventilation. That is why parents constantly keep saying that every day is important for Anika and they try to enjoy every moment with her, without knowing what tomorrow brings.

The second reason is the weight recommendation for administration of Zolgensma. Anika has been struggling with gaining weight. But recently, she started to grow rapidly and in just couple of months she gained 1kg. Now the parent are concerned that if Anika keeps growing with the same pace, they will not be fast enough to collect the money so that she fits the European SMA experts recommended weight limit of 13,5 kg. The dilemma Anika´s parents are facing right now is terrible. By collecting the money fast, we are enabling the parents to enjoy in the fact that Anika is finally gaining weight easily.

In Belgium, the money for little Pia Boehnke has been collected in 3 days, and in Slovenia for little Kris in 5 days. Everything is possible, if we are united in this mission to help Anika.

https://sundhedspolitisktidsskrift.dk/nyheder/2518-familie-lykkes-med-at-samle-14-millioner-kroner-til-verdens-dyreste-laegemiddel.html?fbclid=IwAR0o49l-03vWjAXABXIOn-KiwAnboEeMjwnKl5M5UuIyIu5gIc9BmjL6jRA

Q6. Why does the family have to pay for the treatment themselves? Don’t they get help in the healthcare system?

The family has received a lot of help in the Danish healthcare system. Especially the treatment called Spinraza, the first approved treatment for SMA, that saved the lives of thousands of children all over the world, including Anika’s. As of today, it is the standard treatment in most European countries. Unfortunately, Spinraza’s effect, in Anika´s case, seems to be mainly in motor skills development, but little in terms of respiratory and swallow functions. Zolgensma’s effect seems to go into every part of the body due to its systemic nature. So it works slightly better than Spinraza for motor skills and significantly better for respiratory and swallow functions.  Zolgensma has been approved by the European Medicines Agency in May 2020, but is not yet included in drug registries in most European countries. The price negotiations for reimbursements normally take several months or even years. Just like it took several years until Spinraza was included in the register of medicines, it will probably be the same case for Zolgensma. Moreover, each country will make its own decision about which SMA type, age and weight will be covered.

Still we are aware that Anika’s illness will not wait. There is no more time to waste, we have to act now.

Q7. What are the long-term effects of Zolgensma? What can we hope for Anika?

The first trial for Zolgensma started in May 2014. So the initial trial participants are about 6 years post treatment. Children who received the approved dosage have continued to improve and show no sign of deterioration. Majority of them are not on any additional treatment.

However, Zolgensma is still a new drug. And as with any new drug, there are limited scientific reports or longitudinal studies on the efficacy of a new drug in a broad spectrum of patients. Anika’s peers who received Zolgensma now stopped using breathing equipment, swallow better, talk normally, and a few of them walk. It gives us hope that Anika will first of all survive, and live a long and fulfilling life.

Even though the family is beyond grateful for all the support SMA patients are receiving from the state, hospital, RCMF and municipality, parents´ greatest wish is that Anika does not require that much assistance from the system, and that her parents can return to being fully contributing citizens that are included in the society instead of needing special support to take care of their child.