SMA Europe campaigns to improve the quality of life of people who live with SMA, to bring effective therapies to patients in a timely and sustainable way and to encourage optimal patient care.

SMA Europe

SMA Europe campaigns to improve the quality of life of people who live with SMA, to bring effective therapies to patients in a timely and sustainable way and to encourage optimal patient care.

Latest News

27/02/2019

Scholar Rock Announced Positive Interim Results from Phase 1 Trial of SRK-015 in Healthy Volunteers and Updates on Future Development Plans

Scholar Rock announced positive interim results from the ongoing Phase 1 clinical trial of its potential muscle-targeted SMA therapy, SRK-015 in healthy adult volunteers. What is SRK-015? SRK-015 is an antibody which inhibits the activities of a muscle protein called myostatin. This protein restricts muscle mass and strength. Scholar Rock believes that by preventing the activation of myostatin, […]

25/02/2019

SMA highlighted at Eurordis’ multi-stakeholder symposium to improve patient access to rare disease therapies

Over 250 rare disease stakeholders gathered in Brussels on 13th & 14th February to develop and endorse Eurordis’ new proposed framework to sustainably improve patient access to rare disease therapies. Mencía de Lemus, President of SMA Europe, delivered a clear message. Despite the speed with which treatments are being developed for SMA, many challenges still […]

19/12/2018

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Latest Projects

Combinatorial ASO therapy using SMN-dependent and SMN-independent protection against SMA

Dr. Laura Torres-Benito University of Cologne

Laura - July 17 - smDr. Laura Torres-Benito, from the Wirth Lab at the University of Cologne, was granted an SMA Europe award to see if combining a compound which increases SMN production (such as Spinraza™), with a molecule involved in endocytosis called neurocalcin delta (NCALD), will counteract the disturbed function of motor neurons, even in the most severely affected type of SMA.

Background

SMA is caused by mutation/deletion of the SMN1 gene. This gene produces a protein called SMN, which is crucial for the survival of the nerve cells involved in muscle function. The severity of SMA is determined by the copy number of a second gene, SMN2, which also produces the SMN protein, although only about 10% of the protein produced is viable.

Recent studies suggest that there are additional cellular mechanisms which determine the severity of disease, in addition to copy numbers of SMN2. Despite advanced understanding of the genetics involved in SMA, the cellular mechanisms which cause SMA are not yet completely understood. The investigator’s team previously observed that a mechanism called endocytosis, the process which allows cells to recycle and transport molecules, is impaired in SMA, as a consequence of low SMN levels. This process is very important in nerve cells, because they need to be able to rapidly release neurotransmitters to communicate with each other and with muscles. Without this specialised recycling, synaptic vesicles are not recycled fast enough to keep up with nerve and muscle cell activity.

What are the researchers aiming to do and why?

Based on preliminary evidence which suggests that neither molecules (such as Spinraza™) nor drugs which restore SMN levels will be sufficient to cure SMA and building on the findings from her laboratory, Dr. Torres-Benito will be looking to see if combining a compound which increases SMN production (such as Spinraza™), with a molecule involved in endocytosis called neurocalcin delta (NCALD), will counteract the disturbed function of motor neurons, even in the most severely affected type of SMA.

How will this work benefit patients?

The current clinical trials in SMA which target SMN protein levels are showing great promise. Indeed, one such treatment has just been approved to treat all SMA patients in Europe and the US. Whilst this represents an important milestone in SMA research, it is also clear that these strategies fall significantly short of representing a cure for SMA. Therapies that target other/additional cellular and molecular pathways will likely be required to treat the full range of phenotypes and pathology observed in SMA patients across their life-span.

It is hoped that this potential therapy will not only ameliorate disease symptoms in pre-symptomatically treated SMA patients, but also to substantially ameliorate SMA patients’ condition where disease symptoms are already present. At the same time, this work will facilitate the initiation of new clinical trials based on new molecular targets. The laboratory’s discovery of NCALD as a treatment for SMA and other neurodegenerative disorders has been protected by a US-patent filed on 29th July 2013 (EFS ID 16445285).

Restoring Disturbed Energy Homeostasis in SMA motor neurons

Dr. Min Jeong Kye, University of Cologne

M.KYE - smDr. Min Jeong Kye, Head of lab at the University of Cologne, was granted an SMA Europe award to see if restoring levels of the energy transport system in motor neurons using a series of molecules can ameliorate SMA phenotype.

Background

SMA is caused by mutation/deletion of the SMN1 gene. This gene produces a protein called SMN, which is crucial for the survival of the nerve cells involved in muscle function. The severity of SMA is determined by the copy number of a second gene, SMN2, which also produces the SMN protein, although only about 10% of the protein produced is viable.

Recent studies suggest that there are additional cellular mechanisms which determine the severity of disease, in addition to copy numbers of SMN2. Despite advanced understanding of the genetics involved in SMA, the cellular mechanisms which cause SMA are not yet completely understood. The team previously observed that the molecular pathways and cellular components which regulate energy in motor neurons are affected in SMA. More importantly, they found that the levels of cellular ATP (cells’ energy store & transport system) was lower in SMA motor neurons.

What are the researchers aiming to do and why?

The team will seek to restore the levels of the energy transport system in motor neurons using a series of molecules to see whether this can ameliorate SMA phenotype.

How will this work benefit patients?

The current clinical trials in SMA which target SMN protein levels are showing great promise. Indeed, one such treatment has just been approved to treat all SMA patients in Europe and the US. Whilst this represents an important milestone in SMA research, it is also clear that these strategies fall significantly short of representing a cure for SMA. Therapies that target other/additional cellular and molecular pathways will likely be required to treat the full range of phenotypes and pathology observed in SMA patients across their life-span. The molecules the team will be using are druggable, which makes them relevant candidates for SMA therapy.