Julie Breneiser, Executive Director Notes
Hi Everyone and thanks so much for making the time to join this town hall.
A couple of pieces of housekeeping before I start.
Please be sure to mute your microphone so we do not have background noise.
If you have any general questions, I will take them when I finish talking. You can send them using the chat function on ring central. This is an icon at the bottom of the screen. You will see where to write your question.
My name is Julie Breneiser and I am the Executive Director of the Gorlin Syndrome Alliance (GSA). Here is a brief background on my history. I was diagnosed with GS when I was 12 years old and have had many of the common manifestations. My two young adult children are also affected.
About 15 years ago, I became involved with what was then the Basal Cell Nevus Syndrome Life Support Network when my son had some manifestations that surprised me. I had thought I knew what I needed to know about the syndrome and clearly did not. At the time, I was not a support group kind of person but came to realize that by being involved, I can make a difference in my own life, that of my kids, and maybe many others. I joined the Board of Directors and was President of the BOD when I was asked to take on the role of the Executive Director last year.
Now I would like to update you all on what is happening with the Gorlin Syndrome Alliance.
Before I do so, I would like to say that we cannot do our work without your financial assistance. Shortly you will hear about the progress we are making and the hope for the future that we have. But, in the meantime, we need help. Please consider donating to help our efforts. This can be done using the information on our web site. Another option to consider is regular / automatic monthly donations. This truly will make a difference and all donations are used directly to pay for the work we do,
Ok, now, let’s talk about the current clinical trial for the topical agent called Patidegib. Even with the pandemic, this global trial continues to move forward. I would like to give a huge shout out of thanks to all the trial participants. Though I am not in this trial, I have been in two others and I know that taking time out to go to appointments, in the best of circumstances, is a challenge. Add in the COVID 19 pandemic where concerns for everyone’s health and safety is at the top of the list, the burden is even greater. But, you trial participants continue to work with their sites and remain in the trial. That is truly awesome.
In my opinion, clinical trial participants are true heroes. The gift, the opportunity you are giving yourselves and others by participating is just tremendous. I cannot say thank you enough. Participation in this and all trials has led and may lead to more treatment options for many with Gorlin Syndrome.
Looking ahead, we are incredibly fortunate to be working with a few pharmaceutical companies who are developing clinical trials that may begin later this year, and surely in 2021. I am not at liberty to go into detail at this time but, as soon as possible, we will be sharing information on these trials with you. Believe me, the work, the painstaking detailed efforts by the pharmaceutical companies, and their physician advisors to develop trials, and get through the FDA approval process is incredible.
One of the things that has been reinforced in my mind over the past year as Executive Director is that agencies like the FDA really do not understand what Gorlin syndrome is, and what it is like to live with it. With such a rare disease that affect about 1 in 27,000 to 31,000 people, it is not a realistic expectation for them to know about it, and all the potential manifestations. Nor is it a reasonable thing to expect doctors to be taught about Gorlin syndrome in medical school. So, this puts the obligation on us to teach them. Later this year, the GSA will conduct a Listening Session with the FDA. A few of us will be speaking with the FDA virtually by video conference to give them an overview of what Gorlin syndrome is, along with its burdens, and what we need help with, what our unmet needs are. In 2021, we plan to have another meeting with the FDA that will be an all-day event, that everyone can attend hopefully in person or virtually. We will keep you posted on this.
The bottom line here is that by raising awareness of Gorlin syndrome in the FDA, they will understand our burdens and needs, and be more likely to thoroughly evaluate and respond to pharmaceutical companies and researchers when they are approached with clinical trial and research proposals. The goal is to smooth the path to the development of new treatments and ultimately find a cure for Gorlin syndrome.
How else do we teach people about us? We learn about us by doing a comprehensive registry or questionnaire about the manifestations that we have. I know, I know you may have done one before. Here’s why I hope that you will do the GSAPR, the new Gorlin Syndrome Alliance Patient Registry. This is the most complete one ever. Several Gorlin syndrome physician experts have been involved in the development of this registry, and we know that it will have tremendous value to physicians, researchers, and pharmaceutical companies going forward. The Gorlin Syndrome Patient Registry is really an extensive questionnaire that can be completed in sections, it does not have to be done in one sitting. Also, once completed, participants will receive an Amazon gift card! The registry will open up, available to complete in the coming months. We will be announcing it on the web site, Facebook, Instagram and via email.
The GSA is working in several other ways to raise awareness of Gorlin syndrome. In the upcoming month, I will be speaking on five separate occasions to a variety of groups including NORD (National Organization of Rare Disease) and IAPO (the International Alliance of Patient Organizations) on our syndrome and the importance of awareness as well as the value that patient groups bring to the table when developing new treatments and clinical trials.
We are broadening our presence in social media platforms including Facebook, Instagram and LinkedIn with regular posts containing updates, information, and suggestions. Our website is undergoing a major update as well.
Another new program that is under development is our International Advisory Panel. We will be working with Gorlin syndrome patients, caregivers, and support groups from ten different countries worldwide. As many of us know from attending in-person and virtual meetings, the burdens of Gorlin syndrome are the same no matter where you live. And, if we work together across the globe, we can potentially find more ways to improve the quality and quantity of our lives.
All the GSA staff is excited about our upcoming virtual conference on Saturday, October 24th. We have some great speakers lined up and look forward to providing more information and updates as date approaches. This will be entirely virtual, and we are incredibly fortunate to have staffers with experience in this arena.
Our virtual community meetings are slow to gain speed but, all those who participate consistently come away grateful for the time together. I want to thank our facilitators, remind you of the different groups and tell you about some upcoming changes in the make up of a couple of them.
First Tuesday of every month – women 18 to 44 will meet. This is a broader age range.
Second Tuesday of each month – Parent virtual community group
On the third Tuesday of every month, women over 30 will meet. Starting in October, this age range will change to women 45 and up. Again, this does not start until next month.
Fourth Tuesday – New to Gorlin Syndrome and the GSA. This group is moving to a quarterly meeting, kind of like these town halls so watch of reminders.
And for the men, your community meeting is on the first Thursday of each month. With this group going forward, we would like to invite the Dads out there to join the chat.
Hopefully, you will mark these regularly scheduled meeting dates on your calendars. Again, all those who have participated really found them worthwhile and we all feel that they are an important asset to our members.
When I became involved years ago, we had extraordinarily little hope for future treatments. Then came the hedgehog inhibitors, Erivdege and Odomzo. This has provided some relief of the burden of the BCCs to many adults. Now, with the topical Patidegib trial and others that are upcoming, there is even more hope on the horizon.
By working to raise awareness, particularly with the FDA, the pathway to drug and treatment development should get smoother.
Again, I ask that you consider donating to the GSA to help us continue this work that is critical to our future, to the quality and quantity of our lives.
Thanks very much.
Now I will take some questions but, please share individual concerns with us separately by calling 267-689-6443 or emailing the GSA at firstname.lastname@example.org.