2012 Scientific Meeting Update–Moving Towards a Cure

With 65 registered attendees from academia, industry, the medical community and government agencies, the 8th annual Angioma Alliance CCM Scientific Meeting was the biggest yet and the quality of the science presented was exceptionally high!  People from all over the world attended the preeminent meeting about CCM which could not have happened without Angioma Alliance.

We are so grateful to everyone who gave their time to attend the meeting, freely shared their data, engaged in lively discussions, and worked to foster new collaborations.  The meeting included presentations from basic and clinical scientists.  Session topics included: Proteomics, Protein Structure & Function; Signaling; Vascular Biology & Inflammation; Lesions Genesis; Magnetic Resonance Imaging Techniques; and Clinical Studies.  Much of the data presented was new and unpublished; therefore we are unable to report specific results from the presentations.  Here is a general summary highlighting a few important advances that have happened in the past year.

The field of CCM research is still relatively young and there are far more questions than answers.  One important question is, what are the functions of the CCM proteins?  That is, what do they do in the cell and why do they cause CCM lesions when they are mutated?  To address this, a number of groups have taken a structural biology approach to better understand the physical shape of these molecules.  Knowing the structure allows researchers to identify new interacting partners and uncover previously unknown functions.  We are learning that these molecules have many important roles in the cell.  How these different roles affect CCM disease remains unknown.  By studying all the functional roles of the CCM proteins, researchers may be able to identify new drug targets.  This line of research may also lead to better understanding of how treatments will affect sporadic versus familial disease and whether or not treatments will be effective for all of the CCM gene mutations.

Translating research findings from the laboratory to clinical treatment is a key priority and mouse models are essential to this process.  Researchers must demonstrate clinical effectiveness of a drug on mouse models before any testing can be done in humans.  It has taken many years to refine the CCM mice to be an effective tool for treatment studies.  The mice being used now develop CCM lesions like human patients and develop lots of them.  Having lots of lesions is important for treatment studies because it will be easier to see if a treatment is working.  Updated results with the Fasudil treated mice continue to be very promising.  In the future we look forward to leaning about how statin treatment and other drugs affect mice.

As we continue to think about moving laboratory findings and mouse studies toward treatments for the human disease, we need to have a good way to measure potential drug effects.  In cancer, one can determine that a drug is effective if the tumor stops growing or goes away.  With CCM, it is not that simple…we want a drug that stops lesions from developing (particularly in familial cases where multiple lesions are common), we want a drug that stops bleeding from happening, and we want a drug that stops lesions from growing.  How can we measure these things?  We don’t want to just wait for a bleed to know.  New magnetic resonance imaging (MRI) techniques are being developed specifically to address these questions non-invasively.  These techniques will likely be very useful tools in clinical practice for monitoring personal health and wellness and also as we look to the future of clinical trials.

Clinical trials were the focus of a group Panel Discussion that closed the meeting.  We chose to focus the last two hours of the meeting on this topic and use the CCM Meeting as a venue to bring together all of the important stakeholders who are needed for a successful clinical trial.  Those stakeholders include patient advocates (Angioma Alliance), researchers, clinicians, as well as representatives from the Food and Drug Administration (FDA) and National Institutes of Health (NIH).  In this discussion we talked about:

  • Biomarkers – Using MRIs to measure drug effectiveness
  • Recruitment – How to effectively advertise and enroll a large number of patients in a multi-site study.
  • Funding – How can the NIH help to fund a clinical trial for CCM.
  • Regulatory – What is the FDA regulatory process and paperwork needed for a trial, and how can Angioma Alliance help?

Importantly, we also discussed feasibility of starting a CCM trial from the science perspective – are we ready to move ahead with Fasudil, should we wait for statin results, would another drug be better?  These are all extremely difficult questions to answer.  At this time, although the Fasudil research is looking very promising and we are anxious for the statin results, neither drug is ready to move to human treatment studies quite yet.  Stronger evidence of effectiveness in CCM1, CCM2 and CCM3 is needed and those data are being generated currently.

We are definitely on the right track and Angioma Alliance has brought all of the key players together.  Each year we see the research growing at a faster pace.  People with CCM can now have hope that human drug trials will start in the not so distant future. Just three years ago we couldn’t have said that.  Together, with these scientists, we will find a cure!

Summary provided by Dr. Amy Akers, Chief Scientific Officer, Angioma Alliance

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