From Bench to Bedside
Above: Bringing a treatment from bench to bedside is a long and laborious process. After screening thousands of compounds as therapeutic candidates for USH3, BF844 was identified. It has now undergone extensive, years-long pre-clinical testing to establish its efficacy and evaluate its safety. Phase-I trials can begin in human beings as soon as sufficient funding has been secured.
Dear Usher III Initiative Friends,
As 2022 draws to a close, we are thrilled to share updates on our recent progress. We are also honored to be able to spotlight the patient perspective through our featured interview with Jonathan and Michael Tutnauer, two brothers with USH3 with whom we recently became connected through the generosity of their great uncle, the late Bernard Gevertzman. Highlights from our interview are excerpted below and you can access the full text here.
This year, we prepared to transition BF844, our novel compound for the treatment of USH3, from bench to bedside. We are excited to report that we completed all pre-clinical safety tests, began scaling up manufacturing of BF844 to meet regulatory standards, refined the design of Phase-I clinical trials per FDA feedback and began preparing for a retrospective natural history study of USH3. In addition to our scientific accomplishments this year, we also presented at the annual USH Coalition Connections Week Conference.
With sufficient funding, we plan to commence Phase-I trials in healthy volunteers in 2023. Phase-I trials are an essential step in the translation of laboratory science into clinical benefit for patients. Through these studies, we will be able to establish the safety and tolerability of BF844 and determine the appropriate dose for therapeutic use in patients. Without this critical first step, patients cannot gain access to the drug.
In the coming months, we will also lay the groundwork for Phase-II therapeutic trials in patients by initiating the retrospective natural history study we designed this year. This important study will enable us to map the average disease progression of USH3 in patients, identify the ideal point for therapeutic intervention, quantify the actual number of confirmed USH3 patients, and define target Phase-II clinical trial outcomes.
Clinical trials in USH3 would be a breakthrough medical advancement: for every 5,000-10,000 compounds identified in the laboratory, only 5 will make it to phase-1 trials on average. With your help, BF844 could be one of those 5.
As we shift our focus towards clinical trials in the New Year, we hope you will keep us in mind—with your continued support, I have no doubt that we can accomplish the many important milestones that lie ahead. Every contribution brings us closer to clinical trials.
Whether you are USH3 patients, or friends and family, we would like to take this opportunity to thank you for your ongoing commitment to our cause.
Please enjoy our interview with Michael and Jonathan, and I look forward to keeping you apprised of our progress in 2023.
We would like to wish you and your family happy holidays and a healthy New Year.
With gratitude,
Cindy Elden
President and Co-Founder
Acknowledging Bernard Gevertzman
Although the Usher III Initiative is primarily focused on developing a treatment for USH3, our story really begins and ends with the patients suffering from this disease. We have always valued our role as advocates for the individuals that make up this rare disease community, and, to this end in recent years, we have been thrilled to be able to feature interviews with USH3 patients and families in our annual newsletter.
This year, we are honored to be able to share the story of brothers Michael and Jonathan Tutnauer, who were both diagnosed with USH3 while in their 20s. We feel very fortunate to have been connected with Michael and Jonathan through the generosity of their late great uncle: Bernard Gevertzman.
We would like to take this opportunity to formally acknowledge Mr. Gevertzman’s contributions to the field of retinal disease research and express our gratitude for his considerable bequest to the Initiative in 2022.
Mr. Gevertzman was an unwavering supporter of this field throughout his lifetime, and his legacy is enshrined in the medical advancements made possible through his year’s long commitment to this cause. We are so grateful not only to have been included in Mr. Gevertzman’s final charitable contributions.
Mr. Gevertzman’s donation will have an immediate and vital impact as we prepare to take our next step: the initiation of clinical trials. We are tremendously grateful to Mr. Gevertzman and his whole family for this support.
If you’re interested in learning more about planned giving, please contact Georgia Horn at georgia@usheriii.org
Living with USH3: Michael & Jonathan Tutnauer
Above: Michael and Jonathan Tutnauer with their children
Who: Michael and Jonathan Tutnauer
Ages: 37 and 34
Where: Maryland
First Diagnosed: 10 and 7
Careers: Lawyer and Clinical Trial Manager
“Obviously what the disease has taken from me is vision and eventually it’s going to take more hearing, at whatever pace it does… but what it’s given me is perspective, a really good sense of perspective in terms of being to embrace the here and now, embrace the day and not let the future or any fear and worries I have about the future curtail or hinder the experience I’m having in the present moment… so I would say that’s what it’s given me more than anything else, is a greater perspective on life.”
-Michael Tutnauer
“Receiving this diagnosis, it’s a little unimaginable to picture what it’s going to be like in its totality and it’s easy to feel overwhelmed. For this reason, I think it’s so important to take things one day at a time. You’re a lot more adaptable than you might think. Nobody knows what the future is going to hold, but there are so many things that will change whether you have this diagnosis or not. So, stay positive and take things one day at a time.”
-Jonathan Tutnauer
*Parts of this text have been edited and condensed for this newsletter.
Get Involved
Join the Patient Registries:
If you or someone you love has Usher III make sure they are registered on BOTH patient registries. This is critical as we get closer to clinical trials.
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Get Genotyped:
If you have only been clinically diagnosed it is very important to get confirmation of the specific genetic disease you have. For more information on genotyping, visit the FFB’s Retina Tracker.
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Host a Fundraiser:
Encourage your friends and family to support a cause that means so much to you and the Usher III community. Consider hosting a wine-tasting or organizing a walk-a-thon! Use your imagination to gather people and raise funding and awareness! We can help you reach out to your community for some fun in the name of USH3!
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