BCM FAMILIES FOUNDATION

To eradicate BCM by supporting effective treatments for cure to become available for the identified mutations that result in BCM

Studying the relevant research. Attending these researchers' professional meetings & developing relationships with them. Using their advice, experience & expertise both informally & through a Scientific Advisory Board. Funding selected research projects that advance our goal. Funding a Postdoctoral Assistantship at a major retinal research center. Attending meetings of other rare retinal diseases to network & learn what worked well for them. Actively affiliating with NORD, the umbrella organization supporting cures for rare disorders. Connecting with other BCM families via the Internet through a superb BCM website. Building community among BCM families through large BCM Meetings & Workshops featuring expert speakers & through informative regular newsletters. Working together as families on Rare Disease Day, lobbying, "Tell Our Stories" projects, #GivingTuesday fundraising for BCM. Meeting with Directors of Biotechs through introductions via our Scientific Advisory Board. Etc.

We have accomplished, or are far along in the process of accomplishing, every item I listed above. We are extremely fortunate to have several extremely generous "Angel donors" who have BCM in their family & who urgently want cure. We are fortunate to have, as BCM Families Foundation members & participants, some brilliant people with expertise in areas that help us advance. We seek best-possible advice before making decisions. Our Scientific Advisory Board members are great, reaching out to us when each sees something we should know or pursue. We are blessed with highly motivated mission-minded energetic volunteers committed to reaching BCM cure for the sake of their future generations. We are at the right point in history to achieve our goal, thanks to current advances in genetics, ophthalmology, & medical equipment such as CRISPR.

All of the above have been successfully accomplished or are concretely already in the process of advancing toward accomplishment with amazing progress. Specifically, we have an excellent BCM website, a regular newsletter, and major BCM Conferences in Atlanta, GA USA (August 2017) and Venice, Italy (October 2018), over 300 participating BCM families, BCM community projects such as Rare Disease Day participation, a "Telling Our BCM Stories" project & successful #GivingTuesday fundraising together. We have achieved an active Scientific Advisory Board who not only advises us but also actively opens doors for us, very productive relationships with two different biotechs, and are adding two additional Board of Directors members to qualify for membership in NORD for which we have applied. we fund genetic testing for BCM, a biobank for BCM at the University of Tuebingen, Postdoctoral fellowship there. plus BCM research at UPenn & U of FL., 2 BCM mice colonies, a BCM Patient Registry, etc.

The year 2019, has been a banner year! In 2019 the BCMFF concluded the creation of the International BCM Patient Registry, a strategic resource for our community of patients. The software house, Digital Video, delivered the web application at the end of the second quarter. The application has been online at www.BCMRegistry.org since September 1, 2019, and the BCMFF owns this software license. The BCMFF has signed the annual maintenance contracts with Digital Video, with the European Data Protection Officer and with two Registry Managers. Currently (August 2020) in the Registry there are 41 patients with this rare disease enrolled and validated, plus 30 additional BCM patients on a waiting list. The Registry has received the approval of an Institutional Review Board, the Western IRB. Registry managers have successfully completed ethics and privacy training courses. The written Operating Procedures of the Registry have been written, approved and implemented.

The creation of the Registry in the first part of 2019 entailed a high legal expense for the design of the Registry and the drafting of all informed consents and privacy notices in accordance with the privacy regulations of the USA, Canada and Europe. Also regarding expenses incurred in 2019, BCMFF continued contacts with pharmaceutical companies for intravitreal AAV-based gene therapy (IVT). This strategic project also involved legal fees. The end of 2019 yielded a much-desired achievement when BCMFF entered into a confidential agreement with undisclosed participants in pursuit of an intravitreal therapy (definitely preferable to sub retinal gene therapy injections) necessary for avoiding possible damage and perhaps blindness in fragile BCM eyes. The year 2019 and thus far the year 2020 have been a gratifying period of high achievement!