Funding Priorities

These are the programs that will have the most impact for our families and the future of research.

Research and Treatment

A large part of Alliance to Cure Cavernous Malformation’s mission is to drive research for better treatments and a cure. At this time, more than ten possible treatments have been identified and three are in clinical trials.

Our current work is a multi-faceted effort to engage treatment developers, to create and maintain shared tools and resources, and to assist researchers in their patient recruitment and retention efforts, to support efforts to develop expanded methods of measuring drug efficacy.

1) Accelerating Cures Initiative

It has taken researchers and the patient community years to develop all the pieces needed for a successful drug trial. Within the next few years, we will have everything in place: a robust and eager patient community, tools like validated surveys and biomarkers that will measure the efficacy of a medicine, a network of Centers of Excellence to host trials, and a large pipeline of potential treatments. We now need to attract the attention of treatment developers (the pharmaceutical industry and others) in what is a very competitive field among rare diseases. We need to convey the message that we are ready, that a drug trial is feasible, and that developing treatments for CCM would bring a good return on investment.

To that end, in 2021, we launched an initiative to accelerate cures. We hired an Industry Relations Director to coordinate a critical examination of our current resources in order to address any deficiencies, craft a white paper delineating our strong position, and engage in outreach to prospective industry partners. The project also includes launching bridge research that covers any gaps between academic work and the requirements of industry.  One example of such research is a mouse study to offer a head-to-head comparison of the effectiveness of treatments under consideration. We may also be asked to participate in funding pilot trials of treatments that are not under patent.  The cost for this project is $400,000 in annual salary and bridge research.

What's Needed for a Cure

2) Cavernous Malformation Patient Registry

Our patient registry was upgraded at the beginning of 2019 to provide easier access for researchers and a better collection of data. In 2021, we have over 3000 patients enrolled, and we are in a push to find as many affected individuals as possible who are willing to share their information. This data helps us understand the illness and also what our members can offer research and trials. The patient registry forms the foundation for recruiting for any clinical study, including upcoming drug trials. Moving forward, it will help researchers to design better trials. The cost of the registry includes platform costs, costs to program new surveys, staff for outreach and data analysis, and advertising and promotional expenses. Currently, the patient registry and the associated research efforts are an $88,000 annual expense.

Research Efforts Supported by the Patient Registry:

Clinical Drug Trial Recruitment and Retention – With clinical drug trials and additional clinical research underway, the patient registry is being used daily to identify individuals who may qualify as participants and to share information about participation opportunities. We identify and contact potential participants individually and assess their eligibility. We now have three years of trial experience and are expanding our role by performing regular follow-up to encourage compliance and retention.

Data Analysis to Shape Trials – We are working closely with pharmaceutical companies and academics to create viable trial designs and we accompany them to formal FDA meetings. We allow direct access to unidentified registrant data to researchers. We also offer an analysis of data as requested by sponsors. For example, a sponsor was interested in learning about the most common brain locations of symptomatic lesions in our cohort as well as the accompanying symptoms.

CCM-Health Index – The CCM-Health Index is a tool under development to measure the impact of the illness on the lives of our members. Such a measure will be critical in determining whether a medication is truly helpful to our families. Alliance to Cure Cavernous Malformation is in an academic/industry partnership to create such a survey that has required rounds of recruiting – up to 500 registrants in total – to participate in the development. This was no small task – it has meant one-on-one outreach with at least half of the participants, requiring hundreds of hours of staff time. Also because of the registry, we are able to be active participants in the FDA qualification process which will allow the tool to be used as a clinical endpoint in trials. In fact, in 2019, Alliance to Cure Cavernous Malformation initiated an FDA Listening Session in which registry data and patient stories were used to convey the patient experience of the illness to FDA officials. This meeting paved the way for Recursion’s REC-994 Phase II trial plan. We will continue to recruit for this project until the CCM-Health Index receives FDA qualification as an acceptable clinical trial endpoint, with a target of 2022.

Microbiome Project and Non-Pharmaceutical Interventions – One of the more exciting lines of inquiry for our members is research related to non-pharmaceutical interventions that may impact the progression of the disease. At this time, research is ongoing in the following areas: Vitamin D supplementation, microbiome research exploring the impact of gut bacteria and compromised gut lining integrity in the illness, and hypoxia/sleep apnea. Studies are also exploring the potential negative effects on cavernous malformation lesions of hormone use and of treating migraine with Botox injections. Alliance to Cure Cavernous Malformation has supported this research by enrolling patients in pilot studies that have generated data leading to breakthrough findings and publications. Larger projects are now beginning and Alliance to Cure Cavernous Malformation will play a large role in promoting participation among our members and in conveying research results to the patient population. We disseminate information about research findings to registrants in patient-friendly language, including creating a CCM-healthy cookbook that is in its 2nd edition and hosting multiple webinars and discussion groups.

Covid-19COVID-19 Response – We have created a separate COVID-19 registry to track individuals with CCM who also have tested positive for COVID-19. Because COVID-19 appears to result in increased clotting and vasculitis, there has been concern that our CCM patients would experience increased CCM activity if infected. We have also been concerned that those with familial CCM disease, in which every cell in the body has a CCM mutation, may experience more severe COVID-19 complications or may be more likely to become COVID-19 “long haulers.” Alliance to Cure Cavernous Malformation is the only organization or institution with the reach to capture an international cohort of patients in order to track their experience with COVID-19. This registry resulted in a paper in the Journal of Cerebrovascular Disease and Stroke describing the potentially higher risk of brain hemorrhage in those who have sporadic CCM.

3) Annual Scientific Meeting

Our annual international CCM scientific meeting is the most important event each year for research progress. It is the only time our group of scientists, now from 5 continents, meet face-to-face to share their unpublished research. This is the place where they form new collaborations and map out a path to treatments. A number of multi-institution research consortia use the opportunity to hold satellite meetings the day before the official start of our meeting. Every CCM scientific advance made in the last 15 years can attribute at least part, if not all, of its origin to our meeting. While our 2020 and 2021 meetings were virtual, we plan an in-person meeting in November 2022. Building and maintaining our strong community of researchers requires personal interactions that can only be achieved face-to-face. The scientific meeting is an annual $50,000 expense.

4) DNA and Tissue Bank

Our DNA and Tissue Bank holds surgically-removed cavernous malformation tissue and accompanying DNA samples from our members. This is a resource used by researchers around the world. In 2022, we hope to expand the DNA and Tissue Bank to include other biological samples including plasma, serum, and urine which have become important in the development of blood biomarkers. Expanding the DNA and Tissue Bank will require an annual $50,000 expense.

5) Expansion of our CCM Clinical Center Network

To improve care and expand research, Alliance to Cure Cavernous Malformation has facilitated the development and recognition of CCM Centers of Excellence and CCM Clinical Centers. We refer our patients to these centers, knowing they will receive informed coordinated care that follows our peer-reviewed Clinical Care Consensus Guidelines. These are also future locations for multi-center clinical drug trials. Beginning in mid-2022, we plan a dramatic expansion of CCM Clinical Centers to support anticipated upcoming clinical drug trials. Expanding the CCM Clinical Center Network will be an annual $125,000 expense including staff time, travel, and materials.

6) Genetic Testing Program

Alliance to Cure Cavernous Malformation offers free genetic testing to any US or Canadian resident who cannot obtain insurance coverage for testing and who has multiple cavernous malformations that have no alternate explanation. Patients, clinicians, and researchers consider this one of our most important services because it helps with clinical decision-making and it prepares these patients to participate in research. Alliance to Cure Cavernous Malformation employs a licensed professional who is able to order testing and the test results are transmitted to the patient’s physician. Genetic testing is an annual $45,000 expense.

CCM science meeting attendees
CCM Scientific Meeting Attendees

Patient Support and Information

The first half of our mission statement is “to inform, support, and empower those affected by cerebral cavernous malformation.”  No one with cavernous malformation should feel alone. Everyone with cavernous malformation should have the opportunity to make informed decisions about their care.

1) Breaking Barriers Project

In 2021, we began a new initiative to reach out to Black Americans who are affected by CCM. As background, during our development of the CCM-Health Index with the University of Rochester, we were asked whether the sample of patients we recruited to participate in the development of the tool represented the diversity of patients with the illness. We discovered that CCM clinical databases around the country suffer from a severe under-representation of Black patients. To address this, we have created the Breaking Barriers Project, with seed funding from the Julian Grace Foundation and Global Genes. We have been engaging in outreach, interviewing, and community building among Black CCM patients with the goal of improving care and increasing research participation. Our budget for this project in 2022 is $110,000.

2) National Patient Conference

We host two types of patient conferences: national and regional. Our national conference is a multi-day event that is held in conjunction with the International Scientific Meeting. This allows the researchers to meet the individuals they are helping. The conferences include presentations by 5-8 experts, support groups, and social time. If the budget allows, children’s activities are also offered. The presentations from these conferences are live-streamed and available on YouTube. A national conference budget is approximately $20,000.  We have planned an adult patient conference in conjunction with our Scientific Meeting in November 2022 and a family conference with a children’s program in July 2023.

Updated 4.14.22