FundAme: Barcelona SMA Research Symposium Summary

Big thanks to Julie Marlow for sending us this translation of the summary published by the Spanish SMA Association, FundAme, covering the recent SMA symposium held in Barcelona, Spain in November 2010.

The conference agenda was:

  • “The 15th anniversary of the SMA gene discovery: Overview on the impact on SMA disease, pathogenesis and therapy” – Judith Melki, INSERM
  • “Progress in the knowledge of the SMN protein” – Utz Fischer, University of Wurzburg
  • “Development of antisense therapy for SMA” – Adrian Krainer, Cold Spring Harbor Laboratories
  • “Animal models of SMA and therapeutic development” – Arthur Burghess, The Ohio State University
  • “Update and perspectives on clinical trials in SMA” – Enrico Bertini BambinoGesu’ Children’s Research Hospital


Some more specific points discussed at the meetings and which we think it’s good that families understand and know are:

A very recurrent question on the website of FundAme and among families; a question that several people also sent us by email and which we put to the researchers, namely, what is the most promising therapy? Both therapies described by Profs. Krainer and Burghess, with Antisense Oligonucleotidesand gene vectors, respectively, have achieved excellent results in mice and are among the most solid promises of the future. However, we must take into account that they have not yet begun clinical trials in humans and there maybe changes. Not everything that works in mice works in humans.

Related to the previous question, and also at the request of families by mail, we asked researchers about growth hormone therapy in Spain, which has received so much echo in the media. Their answer was that several of them had tested it in cell cultures and had seen nothing, there are no scientificpublications that support it at the moment and they recommend proceeding with caution. However, Dr. Tizzano (Hospital de San Pablo, Barcelona) said he did not want to close any doors and has been in contact with the group using the hormone to share results.

Regarding stem cell therapies, the researchers said it must be taken into account that we are not talking about regeneration of motor neurons and the arrival of new axons to the muscle, but that the therapies with which they are experimenting are to convert stem cells into another type of neurons to settle into the spinal cord and nurture the motor neurons. One such therapy is now entering clinical trials in the U.S.

In this regard it is important to note that all therapies that are being tested have great potential to CURB the disease. There does not exist today an advanced line of work that can claim to cure or reverse the symptoms,notwithstanding that some of the current potential therapies could obtain some improvement as a “side effect”.

As for how long we have to wait for some of the therapies to reach patients (another question that has come via email), researchers have been very cautious, because the first clinical trials are only now beginning and it is difficult to estimate how long they could take. That said, we believe that it can be argued that if the trials go well, we are talking about a few years, and not a few lustrums or a few decades.

The general impression with which we keep, and which has also been confirmed by researchers explicit comments at the end of Monday’s meeting, is one of encouragement and to keep fighting, that the great progress that has been achieved in recent years may be consolidated and lead to early treatment.


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