Rare Disease Report

Update on MLD Clinical Trials

MARCH 08, 2017
Dean Suhr

Dean Suhr of the MLD Foundations provides an update on the latest clinical trials underway to treat metachromatic leukodystrophy (MLD), including an enzyme replacement therapy by Shire and a gene therapy  trial based out of Italy.


I am Dean Suhr, president of the MLD or metachromatic leukodystrophy Foundation. Two of my three girls have MLD land we lost one of them back in 1995. We have been working with families, researchers, clinicians, and policymakers ever since.
I wanted to update you today on some good news and some pending good news for clinical trial research that's been going on with the MLD.
First, Shire announced at the WORLDSymposium in early February the results of the phase 1 phase 2 clinical trial. And the results are very encouraging. They're looking very good. They haven't announced if moving forward with the phase 3 study but with the results that I saw, if I was making those decisions, I think they would do so. And Shire is working on an enzyme replacement therapy so that's an infusion every couple of weeks that would keep the enzyme levels up.
There is another therapy that's completed, phase 1 phase 2,  and it's out of Italy at the San Rafaelle Institute with funding from TIGET, which is an Italian organization, has developed a gene therapy and they're actually doing a gene modification but it's an autologous transplant that coupled with that. Autologous means that you're using your own blood products so the preconditioning which is usually the
bugaboo in transplant is much much milder because they're modifying yourselves and then putting them back in so we're very excited about that.  There's been no formal data published on that. Clearly, we know data from families and the indications are that things are moving along very well so we're excited by that.
We got a couple other pharma companies engaged. Another company called Armagen that is a much earlier stage that got the MLD mouse but there to work on kind of variation of the chaperone therapy and a couple others that are announced that we can't speak to yet. So we're very excited about the progress being made in therapies.

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