Muscle disease sma sma: new therapies, new hope

Traffic map
Traffic map
Site names

Participating in life: For around four million people in Germany, this is only possible with difficulty, because they have a rare, sometimes incurable disease. Medical research is complex and expensive, especially for rare diseases. But sometimes there is such a thing as a small miracle. Example SMA, spinal muscular atrophy: Recently, there is now a therapy against the insidious disease. Which patients benefit from the long-awaited drugs, and how do they work??

By: Bernd Thomas

A life without exercise? Unthinkable for passionate athletes Nina and Andreas Morl, but it’s different for their daughter Emma, who has lost much of her original range of motion and mobility. Emma has SMA, spinal muscular atrophy type 2, a rare disease. About one hundred children are born with SMA in this country each year. Today Emma is 17 years old, already seven years ago we visited her for the first time.

SMA: altered gene with drastic consequences

Both parents are healthy, but carriers of a partially altered gene, as about one in thirty-five to fifty, usually without knowing about it. A child of such parents can develop SMA.

The gene alteration leads to a lack of an important protein that the so-called motor neurons, special nerve cells of the spinal cord, need to grow and survive. They perish. The consequences are dramatic: depending on the severity of the disease, a wide variety of muscles lose their ability to move sooner or later and become increasingly degenerated. Children with the most severe form of the disease, SMA type 1, until recently had a life expectancy of only a few months and years.

Intensive research: hope for life

Which gene causes SMA has been known since 1995. For a long time, intensive research has also been conducted in Germany on possible therapeutic approaches. But until recently, there were only tests to determine without a doubt whether and which form of SMA is present and also whether a healthy person is a carrier of an altered gene.

New RNA drugs: therapy with effect?

In 2016, the news that everyone had been waiting for finally arrives. A new group of agents, known as RNA drugs, appear to be able to actually help with SMA for the first time. The new drugs specifically alter the structure of individual damaged gene segments, known as messenger RNA. The original effect of this messenger RNA thus becomes possible again. In the case of SMA, this means that the missing protein, which the motor neurons need to grow and survive, can be produced again by the drug. The vital cells survive. At the beginning of the treatment, several punctures of the spinal cord are necessary within a few weeks. The drug level must then be refreshed every four months. But these drugs have not yet been able to actually cure the disease.
But today there are drugs that can also be taken orally. And even a genthearpy drug, which has to be given to infants only once under very specific conditions, is already being used sporadically.

Diagnosis of SMA: Survival with the new therapies?

Kristina and Stefan Probst live with their children Leo and Clara near Ulm, Germany. Clara is born in August 2016, three years after her older brother. What their parents didn’t know at the time: They, too, are both carriers of the altered gene. Leo is lucky, he develops completely normally and is healthy. A few weeks after Clara’s birth, her parents notice that their daughter moves less and less, often reacting only with her eyes. Clara’s life is in acute danger. At the beginning of 2017, the diagnosis is confirmed: Clara has SMA type 1, a shock for the parents.

But at that time the family’s pediatrician had already learned about studies on the new agents. Clara gets her chance. As the second child, she received the new RNA drugs at the University Hospital in Ulm, at that time still within the framework of a hardship program. Due to the successes in the USA, a study was discontinued in order to enable as many babies and toddlers with SMA as possible to receive treatment as quickly as possible.

  • <!– –> Ulm Clinic for Pediatrics and Adolescent Medicine [uniklinik-ulm.en]

Successful: pilot project for newborn screening in SMA

In March 2018, little Matthias is born. He also has SMA type 1. His luck: The Friedrich family lives in Bavaria. Following treatment successes with the new drugs, a pilot project for possible newborn screening is underway here in 2018. All children are routinely tested for SMA as soon as they are born. The doctors’ goal is to start treatment before the first symptoms even appear. Because when symptoms appear, the disease is already advanced.

"It is estimated that 90 percent of the nerve cells die within the first six months of life. This means that if we want to have a therapy, or if we want to help with a therapy in time, we have to catch the children before they even develop symptoms."

Prof. Dr. med. Wolfgang Muller-Felber, ISPZ, University of Munich Hospital

Matthias is one of eight children identified in the pilot study by routine screening and treated immediately after birth. He is regularly evaluated according to the same scientific criteria as other SMA children. The success is promising.

"When you look at him like this, he is no different from a normal child in any way. At the moment one would say he is a completely normally developed one year old child. A few years ago he could not have taken this development."

Prof. Dr. med. Wolfgang Muller-Felber, ISPZ, Clinical Center of the University of Munich

The pilot study has now been successfully completed. But it will probably be a long time before SMA newborn screening, which has already been adopted, can be implemented nationwide.

"These processes simply take a certain amount of time, which is why we were able to carry out this project very quickly and will continue to do so as a pilot project. However, a nationwide expansion of the screening will probably still take time."

Prof. Dr. med. Wolfgang Muller-Felber, ISPZ, University of Munich Hospital

  • <!– –> Int. Social Pediatrics Center Munich [clinic.uni-muenchen.en]

New SMA therapy: Success for all patients?

Although with Clara, in contrast to Matthias, the treatment was started only after clear symptoms were already visible, she is also making steady progress. Nevertheless, she will have to live with limitations. How serious and extensive they will be, no one can predict today. Valid study results have so far only been available for babies and toddlers, and only since the treatment has been available at all. So scientifically, much is still unclear. This also includes the question of which patients with which type of SMA benefit from treatment.

"Of course, one has to weigh the pros and cons. Ultimately, we have no data here for the effectiveness of the drug in adolescents and in adults, and we don’t have long-term data on any patient ultimately yet. ."

Dr. med. Claudia Wurster, Specialist in Neurology, Ulm University and Rehabilitation Clinics

Adolescents and adults with SMA: Small advances – big successes?

Adolescent patients like Emma, who is also treated with the medication every four months, are also hoping for an improvement or stabilization of their situation. The very fact that progress is possible and there is no regression is a success. Even seemingly small advances can be of great importance in everyday life.

Patience and time are needed. Ralf Schuster, 30 years old, knows that too. Like Emma, he also has SMA type 2. He knows that what he has lost in mobility cannot be reversed. But he also hopes for a therapeutic success. Like many SMA patients, he has problems with breathing. Even a simple cold can become life-threatening for such patients. Can the new drugs help?

"We see an improvement in lung function in some patients. That is often only ten, fifteen, twenty percent, but it can provide greater certainty for the individual affected."

Dr. med. Kurt Wollinsky, Respiratory Consultation, Muscle Center of the University of Ulm

The costly treatment, which is paid for by many health insurance companies, is often complex and not without risks in adolescent and adult patients, in contrast to babies and small children. Emma’s spine has changed as a result of the disease. The puncture must be performed with the aid of a computer tomogram. In addition to the actual administration of medication, which takes only a few minutes, this is a complicated matter that requires a great deal of experience and knowledge.

In addition: Not all patients are so-called responders, i.e. they respond equally well to the active substances. But: Many teenagers and adults notice changes in themselves, even if they seem insignificant to outsiders.

"So, for example, I have more appetite and I can also sit longer and am generally fitter in the evening."

Ralf Schuster, like many others, wants to continue the therapy in any case. He is employed. And for him, even the smallest movements are of crucial importance. A further loss of his ability to move would probably mean the end of his scientific career.

"Of course, it is very important for me to be able to use the mouse on the PC so that I can work. That’s why I hope that this will stay with me."

Ralf Schuster, physicist

He has also noticed changes in himself, which are also confirmed by outsiders: He can speak louder, is more stable in health and has fewer infections. He hopes that this will also be the case in the long run. But that will only become clear in the years to come. Nevertheless, there are already other interesting developments. The new RNA drugs, according to doctors and scientists, also have potential for the therapies of other diseases.

"Here alone, clinical studies are underway for Huntington’s disease, for a genetic form of ALS, and clinical studies are also pending for Alzheimer’s dementia. This could potentially be a breakthrough. In addition, especially for SMA, the development goes far beyond that. There are initial approaches to gene therapy. There are also initial studies on this and they are also very promising."

Dr. med. Claudia Wurster, specialist in neurology, Ulm University and Rehabilitation Clinics

  • <!– –> University and Rehabiltation Clinics Ulm [rku.en]

Patients, parents, doctors: working together for successful therapy

Clara’s doctors especially appreciate the commitment and good cooperation with her parents during her treatment. Important suggestions and information, especially for colleagues in private practice, always come from parents and affected persons themselves. As experts in their own field, many patients and their relatives are now well networked internationally and are always up to date with the latest therapies and research.

Self-help project Muscles for Muscles: Educate and support

Muscles for muscles: Anyone can join in

Every athlete can get involved with the "Muscles for Muscles" campaign by promoting its goals or collecting donations. By arrangement, he can use promotional materials such as jerseys and flyers for this purpose. In the past few years, around 150 patients have been treated in this way.000 euros, which were donated to the "Initiative for Research and Therapy for SMA".

Self-help work today often supports and promotes research in a very concrete way. Back in 2009, Nina and Andreas Morl founded the campaign together with their friend Florian Bauer Muscles for muscles – athletes for SMA. In the meantime, in addition to many popular athletes, numerous celebrities and professionals have also joined the campaign SMAider and ambassadors for the campaign throughout Germany. The principle and the idea make sense: Those who use their muscles particularly intensively as athletes use their strength and commitment for those whose muscle strength is threatened by the disease. The goal is to make the rare muscle disease SMA better known and to raise more money for research. In the meantime, the campaign, which is organized on a purely voluntary basis, has become an important driver of SMA self-help work in Germany.

Inclusion and self-determined life – with SMA

Another important goal is to educate people about daily life with SMA and, last but not least, to fight for self-determination and independence of those affected and their families. Because there are still many hurdles and problems that stand in the way of the goal of inclusion.

An experience that the Probst family has also had to go through on several occasions. The joy of Clara’s progress is repeatedly marred by grueling disputes with bureaucracy and authorities. For Clara’s parents an additional burden to the already strenuous family life.

"All the aids, the applications, the doctor’s visits. It’s every week again something what and you always think, now you have the tool and now is, but then something new comes, it always goes on."

Like this post? Please share to your friends:
Leave a Reply

;-) :| :x :twisted: :smile: :shock: :sad: :roll: :razz: :oops: :o :mrgreen: :lol: :idea: :grin: :evil: :cry: :cool: :arrow: :???: :?: :!: