Statistically, one in 7,000 newborns worldwide suffers from so-called spinal muscular atrophy (SMA). The hereditary disease, which damages nerve cells that are responsible for the movement of the muscles, including the respiratory muscles, is one of the rare diseases. For more than 100 years, most affected babies died after just a few months. For this reason alone, it has always been a matter of particular concern to experts in paediatrics to identify and treat this insidious disease at an early stage.
On October 1st, this wish came true for the University Hospital Gießen and Marburg: At the Center for Rare Diseases located there, such children can now be treated at an early stage, since spinal muscular atrophy has been included in the so-called newborn screening throughout Germany and after years of intensive research is treatable.
For Professor Dr. Andreas Hahn and his colleagues: it’s a special day, as he tells us in an interview with the RHÖN health blog. He is senior physician in the Department of Child Neurology, Social Pediatrics and Epileptology at the University Hospital Gießen and Marburg at the Gießen site and involved in the Center for Rare Diseases located there.
Here and in similar highly specialized centers, however, it is now about more than just diagnosis. Significant advances in research have ensured that many rare diseases, such as spinal muscular atrophy, can now be treated.
In an interview, Professor Hahn explains what advanced newborn screening means for parents whose babies have spinal muscular atrophy. He also names the currently known treatment options and describes the effects of medical progress on his discipline.
Professor Hahn, what consequences has the diagnosis of “spinal muscular atrophy” had so far?
In the most severe form of spinal muscular atrophy, in which nerve cells are irreversibly damaged within the first few weeks of life, most children have died by the age of one and a half years. Or they had to be artificially ventilated and were completely unable to move.
What has changed in relation to this situation?
There was a turning point four years ago. It was then that we received the first drug to treat spinal muscular atrophy. However, until now it has to be administered every four months and injected directly into the nerve water – which is of course time-consuming. Still, it was a milestone for all of us. About a year and a half ago, a so-called gene replacement therapy was presented. Behind this is the so-called “two million euro injection” Zolgensma, known from media coverage. As of today, the associated therapy can only be carried out at a few centers in Germany, including here in Giessen.
What exactly can be imagined by gene replacement?
In this therapy, the diseased gene is replaced by a healthy one. This artificially produced genetic make-up is packed into a non-disease-causing virus that is injected into the patient. The virus then travels through the bloodstream to the brain and into the non-functioning cells in the spinal cord. The healthy gene that has been smuggled in is then released there. This form of therapy was a huge step forward. This is also because we are talking about a treatment option that, according to the current state of research, only has to be applied once. And not several times a year, as is the case with the other two currently available therapies.
Why does it make sense to start this type of therapy in children as early as possible?
First of all, we should state: Even in children in whom spinal muscular atrophy is already well advanced, this gene replacement therapy can be used to achieve clear therapeutic success. But it is better, of course, to start administering the drug early, i.e. at a stage at which the disease has not yet developed or is barely developed. For example, in the first week of life. This can dramatically improve the effectiveness of this treatment.
For this reason, it makes a lot of sense that we have expanded our newborn screening to include the topic of spinal muscular atrophy on October 1st.
Early detection in the best sense of the word …
Our goal is to diagnose the disease at a time when young people are not showing any symptoms at all. Study data already suggest that children who would otherwise have died at the age of one and a half can now learn to walk – only because of this new, very early diagnosis. In addition, it was found that affected children experienced largely normal motor development in their first years of life. This is really great news for all of us who have been dealing with this topic for many years.
In general, one should keep in mind that spinal muscular atrophy is a disease that has been known for over 100 years and has been absolutely fatal for a long time. For many decades it simply could not be treated. Not anymore!
At the moment, in addition to gene replacement therapy, there are also the two other preparations mentioned for the treatment of spinal muscular atrophy. Which ones can you and your discipline particularly recommend?
We inform the patient in detail about a possible treatment for their child. The fact is, there is currently no evidence that one is more effective than the other. We make the therapy decision together with the parents. And most of them are opting for gene replacement therapy right now. Probably simply because, as of today, it only needs to be applied once.
What significance does the expansion of newborn screening have for you personally?
It has been several years since a rare disease such as spinal muscular atrophy was newly included in newborn screening. One of the reasons for this is that certain requirements must be met for such a step.
Which are they?
Among other things, it must be proven that a very early examination and treatment time really leads to the fact that the patient benefits from it. For current early examinations, diseases that affect children immediately after birth are therefore relevant. To find out, it takes extensive studies to show that such advanced newborn screening is really effective and useful. Such a study has been carried out here in Germany.
With what result?
She was able to show that affected patients benefit significantly from such an extended screening and subsequent therapy – in terms of their further development after birth. And of course it took the genetics laboratories and screening centers a bit of time to adjust to the new framework conditions. But the result is impressive.
How will your department develop in the future?
The new opportunities that advances in biotechnology are opening up for all of us will revolutionize paediatrics in general. We are talking about a real paradigm shift here. We will no longer only be able to diagnose many of the rare diseases that we deal with here at the clinic and which have often amounted to a death sentence for affected people, but increasingly also treat them effectively. This is unbelievable progress and, of course, reason for a doctor to celebrate.
Your expert for spinal muscular atrophy:
Professor Dr. Andreas Hahn
Senior physician in the Department of Child Neurology, Social Pediatrics and Epileptology at the University Hospital Gießen and Marburg in Gießen
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