Research and Treatment
Half of Angioma Alliance’s primary 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 assist researchers in their patient recruitment and retention efforts, to support efforts to develop expanded methods of measuring drug efficacy and to attract new pharmaceutical and research partners to develop CCM treatments that may or may not involve medications. We focus on creating and maintaining shared tools and resources that benefit all researchers and patients.
1) Cavernous Angioma 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 2019, 1100 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. The patient registry forms the foundation for recruiting for any clinical studies, including the CCM-Health Index mentioned below and the atorvastatin clinical drug trial currently in progress. 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 contact potential participants individually and get to know them We now have one year of trial experience and are expanding our role by accompanying potential participants to trial screening appointments and 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 will be accompanying 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. We were able to provide this information for ~1500 registrants.
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. Angioma Alliance is in an academic/industry partnership to create such a survey, but it requires rounds of recruiting – up to 500 registrants in total – to participate in the development. This is no small task – it means 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. Most recently, Angioma Alliance 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.
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, hypoxia/sleep apnea, and limiting the use of hormonal agents and Botox (a common migraine treatment). Angioma Alliance has supported this research by enrolling patients in pilot studies which have generated data for lead researchers to apply for additional government funding. When the larger projects begin, Angioma Alliance 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 recently creating a CCM-healthy cookbook.
2) Expansion of our CCM Clinical Center Network
To improve care and expand research, Angioma Alliance has recognized seven CCM Centers of Excellence and one CCM Clinical Center. We anticipate recognizing 4 additional Centers in 2020. 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. Expanding the CCM Clinical Center Network is an annual $15,000 expense including staff time, travel, and materials.
3) Genetic Testing Program
Angioma Alliance offers free genetic testing to any US or Canadian resident who cannot obtain insurance coverage for testing and who has multiple cavernous angiomas 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. Angioma Alliance 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.
4) Aiding Special Populations and Leveraging our Work: Genealogy of CCM2 Exon 2-10 Deletion and the Ashkenazi Jewish Common Mutation
Much like New Mexico, a large group of related individuals who are affected by CCM lives in a band of states in the Southeast. We have a critical need to fund a genealogy project among these families to identify their shared ancestor. So far, we have traced this particular mutation to a couple who were born in the 1760s. Understanding the family tree is important for several reasons. It will help us find and connect more at-risk families; identify geographic areas where we should put more resources into medical provider outreach to improve care; and tie the illness to the story of a state or region, which can raise visibility among the public and among legislators who have an influence on research funding. There is a similar need for a genetic mutation that is specific to the Ashkenazi Jewish population. We are working with Duke University to find and enroll those affected with the Ashkenazi Jewish Mutation in genetic studies and to help the families elucidate the genealogy. The initial budget for these genealogy projects is $18,000. With an additional $25,000, we could move this project forward more quickly by contracting professional research genealogists.
5) Annual Scientific Meeting
Our annual international 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 10 years can attribute at least part, if not all, of its origin to our meeting. The scientific meeting is an annual $50,000 expense.
Patient Support and Information
The first half of our mission statement is “to inform, support, and empower those affected by cerebral cavernous angioma.” No one with cavernous angioma should feel alone. Everyone with cavernous angioma should have the opportunity to make informed decisions about their care.
1) Grassroots Patient Outreach
We have established a Community Alliance model to encourage grassroots participation in Angioma Alliance activities. Each Community Alliance, whether representing an entire state or a metropolitan area, is tasked with fulfilling the mission of Angioma Alliance in their area. We have three part-time regional support staff to assist the grassroots effort. Among their activities, the Community Alliances offer peer support and information through online and in-person support groups, webinars, and conferences; provide outreach to local medical providers, legislators, and media; and host at least one fundraising/awareness event each year. Community Alliances need funds for information and outreach materials as well as staff support. Our member services program has an annual $93,000 budget that includes staff support, platforms, materials, and travel. The Community Alliance model is how Angioma Alliance will grow.
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 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 $14,000.