February 18, 2013 mcfadyena

Intrathecal Trial Update – Words on a Page

It is quite strange to see the last few years of your life boiled down to a few paragraphs of text and a line on a chart. It is even stranger to see a miracle penned as such. Earnings calls and journal abstracts simply cannot convey the joy and wonder of this journey, or even its worry, heartache, and stress.
Those were our thoughts upon reading recent public statements about the clinical trial. It wasn’t bad per se, just very, very surreal.Shire_FY2012EarningsPresentation_14Feb2013_Page_1
This past week, Shire, the pharmaceutical company that sponsors the clinical trial that our kids are in, held its earnings call about its Fiscal Year 2012 financial results. These earnings calls are publicly accessible calls between the executives of a public company and certain investment representatives. Soon after, a transcript is generally available.
It was reading that transcript that revealed several tidbits of information. First, more specific results of our trial would be presented at an upcoming meeting of the American College of Medical Genetics. Second, a Phase II/III trial for the drug is still on course for the second half of 2013.
However, the call also unfortunately revealed that for their MPS IIIA (Sanfilippo Syndrome) drug, because of the wide variety of patients, many being advanced in the disease, they could not show clear clinical impact and thus for MPS IIIA, they were moving to a Phase IIb study instead of a pivotal Phase II/III which is more likely to be one that is needed to prepare for FDA approval. So for MPS IIIA, it unfortunately feels like the wait for FDA approval could be longer unless Shire elects to seek the accelerated approval pathway (for example, see What’s Next for Sarepta Therapeutics Inc (SRPT)? and Sarepta likely to face uphill battle if it seeks accelerated approval for eteplirsen in Duchenne’s). For the entire text of the earnings call, go to Seeking Alpha (free registration required for full text); for the entire presentation, go to Shire’s website.Shire_FY2012EarningsPresentation_14Feb2013_Page_2
We thought this information was too important to our community to be shared by our backdoor, private Facebook group channels. Not everyone trolls these groups much less earnings calls or meeting schedules, so if the information is out there in the public domain, then it might as well be out here in our community.
Excited about the prospect that more specific data about the trial will come out next month, we hopped on over to see when the data would be presented. There we were lucky enough to find an abstract of the presentation. The abstract entitled Cognitive Performance in Children with Hunter Syndrome Receiving Investigational Intrathecal Enzyme Replacement Therapy by Stein et al., specifically notes:
Longitudinal assessments using the Differential Abilities Test 2nd version (DAS-II) were obtained in 5 patients, with follow-up times varying from 6 months to 24 months. Four of these patients, who received 10 or 30 mg idursulfase-IT, showed a stable or higher General Conceptual Ability standard score of the DAS-II. In particular, one child with a family history of severe Hunter syndrome maintained his score for up to 2 years after initiation of intrathecal enzyme replacement therapy.
It is exciting data, we suppose, to other scientists and physicians who may not have seen it firsthand (or read this blog!). Considering the many drugs that work in animals but may not go on to work in humans, it really is amazing.
We so look forward to the beginning of the MPS II Natural History study at UNC, Chicago, and Oakland so far (several friends are preparing to enter that), along with the next phases of the MPS II and MPS IIIA studies later in the year!
Cross-posted on Saving Case


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