Progress Toward the Cure: A Letter from our CEO

Dear Friend of Alliance to Cure Cavernous Malformation,

I would like to share with you the news of the last few weeks and what Alliance to Cure Cavernous Malformation is doing to accelerate the cure as we move into 2022.

A Mouse Story

Since we wrote our newsletter, we’ve hosted our annual International CCM Scientific Meeting. This meeting brought together over 200 scientists from 5 continents who are laser-focused on understanding and finding cures for CCM. Over 2 days, they share unpublished research and discussed the next steps to move forward. We were virtual again this year – not ideal, but still very productive.

I want to share one important outcome as an example of the critical role of Alliance to Cure Cavernous Malformation in accelerating the cure. To study CCM, research labs breed a myriad of different mice. Some mice are bred with changes that resemble people with genetic CCM1, CCM2, or CCM3 mutations. More recently, some mice have been bred to resemble people with sporadic forms of the illness. Mice are manipulated in a variety of ways to answer specific questions. For example, some are induced to form many lesions early while others do not begin forming lesions until adulthood. In short, we now have many mice that replicate the human illness to the degree that they are a good model for drug testing. Honestly, we have too many mice.

Having many kinds of mice makes it difficult to compare results from one lab to another, from one mouse type to another. Being able to compare the results of one mouse drug trial against another is necessary to determine which medicines are working best to stop hemorrhage or regress lesions and should be moved to human trials. We need a comparative mouse study – multiple medicines tested in the same mouse – to figure out which medicines should move forward. Ideally, this experiment should be repeated in a few select mouse models to make sure a medicine could work for all forms of the illness. This is not an experiment that the National Institutes of Health will fund, and there is not one lab that has the capacity in their mouse facility to perform all the work needed.

At our Scientific Meeting, Alliance to Cure Cavernous Malformation proposed and offered to convene a collaborative international CCM mouse working group. The working group would consist of labs interested in participating in a comparative mouse study which could include all 12 labs with mouse models around the world. The idea was enthusiastically embraced by the scientists present, and we are now in the process of organizing a full committee and setting up meetings.

Once the committee agrees on mouse models, the technology to breed them can be transferred from the original labs that developed the models to all the groups to allow many medicines to be tested quickly. This collaboration and sharing of resources would be disruptive and revolutionary and should save years.

When we appealed to you during our Accelerating the Cure Together Celebration in August, we mentioned raising funds for the last experiments needed before human trials – comparative mouse studies are an example of that kind of experiment. Because of you, we have $200,000 to put toward this effort, which is a good start. We hope the seed money you gave will attract the philanthropy needed to move this million-dollar effort from concept to reality. Alliance to Cure Cavernous Malformation is the only entity that can convene this international workgroup, and we are the only ones who can assemble a funding package.

Tackling Tough Challenges

What are the other big challenges your gifts are allowing Alliance to Cure Cavernous Malformation to tackle?

  • We are working to narrow the list of medicines under consideration to those that have the most potential both biologically and commercially. We are approaching potential pharmaceutical industry partners to partner with us and with the leading CCM research labs.
  • We are accelerating the development of CCM Clinical Centers by hiring a Medical Affairs staff person. We need to expand expert care and to create a robust, accessible network for trials.
  • We are engaging in a major expansion of our DNA/Tissue Bank to include other sample types, like plasma, that are needed to develop inexpensive diagnostic and predictive tests.
  • We are addressing the challenge of measuring clinical trial outcomes by working to develop the CCM Health-Index. This CCM-specific scientific survey will be submitted to FDA as a primary outcome measure for clinical trials, allowing experiences not captured on MRI to be taken into consideration.
  • We are the only ones who can address the problem of patient recruitment. Most trials fail because of lack of participation, but we pledge to keep this from happening to us. To do this, we continue to host and expand the largest patient registry in the world. We support our families and keep them informed and engaged. We have extensive, dedicated outreach to underserved groups through our Breaking Barriers project and through our continued work with those affected by the Common Hispanic Mutation. Treatment trials need everyone!

Our end-of-year letter has evolved over the years to include activities I could not have imagined, yet we remain a tight-knit community that cares deeply about each other. It has been a challenging year for many of our members who lost loved ones to COVID or to CCM. Our hearts are with these families in their grief, and we hold them close.

In 2022, Alliance to Cure Cavernous Malformation is entering our 20th year. It will be a year of focus and action as we begin to fulfill the promise of the previous 20 years. During this giving season, please join us in ensuring that the promise of accelerating cures is kept by making a tax-deductible year-end donation at

Thank you for your support through this unusual year and for the trust you place in us. We will find the cure together.

With gratitude,

Connie Lee, Psy.D.
President and CEO