The Final Day of the Scientific Workshop

The first presentation of the morning was entitled “Cavernous malformations of the human brainstem: quasi-automatic three-dimensional-reconstruction from a stack of serial histological slides with a computerized technique” by François Chapon of CHU de Caen. François demonstrated how he is able to create a computerized 3-D model of a cavernous angioma and surrounding tissue from an excised lesion. This allows for very fine virtual examination of lesions including understanding how lesions are related to nearby vessels and whether they are, indeed, one connected group of cells. This was followed by a last minute addition to our program by Phillipp Dahmann of Euisberg-Essen who presented on the use of 7 Tesla SWI MRI to examine lesions.

Our two United Kingdom presenters, Jonathan Berg and Rustam Al-Shahi Salman, addressed the quality of the data that we have on cavernous angioma patients and treatment. This was followed by a short discussion of the need to find ways to integrate existing patient registries so that we are collecting a consistent set of information.

This launched us into a joint presentation by Issam Awad and Rustam Al-Shahi Salman and a discussion of clinical drug trials. Rustam Al-Shahi Salman helped the researchers to understand the number of participants that would be needed in order to run an approved, effective trial of any medication. The bare minimum number of patients is 1500, but as many as 30,000 may be needed depending on how powerful the medication turns out to be. The Angioma Alliance Patient Registry still has fewer than 400 participants and many are ineligible for medication trials because they no longer have a lesion or are on statins. It is clear that an international effort will be required in order to recruit sufficient participants. It is also clear that, because of our small numbers, we will not be able to test a large number of medications and must choose very carefully the one or two medications that are likeliest to have an impact. This means a longer time spent with animal testing and with other screening methods rather than moving quickly to human trials.

The afternoon presentations were spent exploring different facets of the progress of the University of New Mexico/UCSF/Angioma Alliance joint study. This study has now recruited 100 of the 500 individuals with the Common Hispanic Mutation they intend to recruit – finding patients who are willing to participate is a challenge in this project as well. The study is nearly ready to begin a very small pilot study of a statin medication to see if there is any impact on the leakiness of vessels in humans. As the project continues, the researchers will be tracking study participants for 5 years using MRI and medical records. They will be documenting what they find and comparing the progression of the illness with results of a genetic test called a genome wide association study (GWAS). GWAS may help us to understand what other biological factors may play a role in worsening the illness in some people.

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