Yes, I thoroughly agree that it is very hopeful, thanks for sharing
it with the members.

I had come across this abstract a few weeks ago. Since then, I have
been in contact with someone who sponsors research on dysferlin
deficiency, and since then my contact has discussed this report with
many researchers, and visited Dr. Spuler's lab and in fact met the
patient in the report.

I can't tell you all the details, but we are trying to figure
out/get researchers interested/get funding sources interested in an
appropriate follow-up. This could be a trial with one of the
dysferlin-deficient mouse strains, or a human trial, or a human
pilot on a few patients.

I should also point out that some researchers are skeptical of the
results. It's a report on a single patient, not a controlled
clinical trial. There also have been a few other reports of people
with dysferlin deficiency being put on IVIg, apparently without
benefit. In many cases this happened because the patients had been
misdiagnosed with myositis. It may be that dysferlinopathy patients
experience some benefit from IVIg, but not nearly as much as
patients with myositis. This would be like Prednisone, someone with
DMD gets some benefit, but not nearly as much as someone with
myositis.

Well, this finding may or may not prove true, but it certainly got
my attention when I came across it. I think it's important to
follow up and see if it can be replicated in a controlled clinical
trial.

Brad