FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice
- Eszter Hars, Ph.D., President and CEO, SDS Alliance
- Jul 16
- 5 min read
SDS PFDD meeting delivered the patient voice successfully, as feedback from the FDA confirms. The meeting took place in Cincinnati and online in June 2025.
This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you!
Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, academia, patient community, and other stakeholders.
We created a short video to capture the spirit of the meeting and let the Shwachman-Diamond Syndrome community shine.
The SDS Alliance hosted this milestone event to amplify the patient voice and communicate the unmet needs of the community, thereby accelerating therapy development. A comprehensive meeting report is in development and will be submitted to the FDA later this fall.
The SDS PFDD Meeting was a dream come true. THANK YOU to the SDS community for showing up in all the right ways in full force, and to SDSF for their help spreading the word. It was a very emotional event, but for a very important purpose: to communicate to the researchers and regulators what our unmet needs are, what would be a meaningful change, and that we are here to make therapies a reality. Learn all about the Externally-Led Patient Focused Drug Development Meeting on the SDS PFDD event page at www.sdsalliance.org/pfdd. The full raw recording is now posted.
Patients and caregivers! While the official feedback period has already passed, we are still able to accept comments to to be included in the Voice of the Patient report. All details are available at on the SDS PFDD event page at www.sdsalliance.org/pfdd.
Overwhelmingly positive feedback regarding the SDS PFDD meeting at formal debrief session with the FDA
We received amazing feedback from FDA staff following the meeting. We met with several physician-scientists from the FDA to hear about their takeaways from the SDS PFDD meeting. They shared how extremely moved they were, and that they were "glued to the screen" for the entire meeting. They feel privileged to have been able to hear directly from patients, and could feel the impact that the meeting had on the patient and caregiver community itself. They were deeply moved by the vulnerability that the speakers allowed, opening a window into their lives. FDA attendees walked away with a deep appreciation for the complexities of life with SDS, including the impact of the risk of AML on patients' quality of life and the impact of other symptoms, such as bone and orthopedic issues, as well as digestive issues.
Top of mind: mitigating the risk of AML came through loud and clear. And the need for creative approaches for drug development in this space. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting.
A member of FDA's Division of Hematological Malignancies I shared that this was their first EL-PFDD meeting that they attended and it was fantastic. She was particularly moved by some of the younger SDS patients speaking up with so much intelligence and maturity about their disease, and what they have been through. As a hematologist/oncologist, she was surprised by the impact of the bone and orthopedic issues, which she didn't understand before the meeting, as well as the mental health issues have on patient's lives.
Kids not being able to participate in sports with their friends [...] was a new things I learned from [the families]. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting.
Another member of FDA's Division of Hematological Malignancies I shared that they as physicians often get siloed into their specific areas of specialty, and it was really meaningful for them to see the whole picture of the patient experience that they have not see before. She also complemented the planning team on the technical aspects of the meeting and the James Valentine's skills as a moderator towards bringing out the patient voice and an impactful meeting.
We also heard from members of FDA's Center for Biologics Evaluation and Research (CBER), a center within the U.S. Food and Drug Administration (FDA) responsible for regulating biological products, including cellular and gene therapies, and other related products, to ensure their safety and effectiveness. One member shared, that as a pediatric hematologist/oncologist, she has also heard about the orthopedic challenges before, but she didn't fully understand its impact until she heard from the patient community at the meeting. Her work at the FDA revolves around cell and gene therapies. These therapies, right now, only benefit the hematological aspect of the disease, and don't necessarily have an impact on other parts of disease.
Some of the conversations we have internally include questions such as "is this enough and would patients want to go through this, if all we are doing is helping with the hematologic aspect of the disease". And what we heard was a resounding YES. It would a huge Quality of Life [improvement] if we could alleviate the fear of developing leukemia, knowing that there may still be other complications of the disease. I found that really encouraging because as we develop these cell an gene therapies, we want to make sure that they lead to meaningful long term benefit to people. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting.
She learned that the immediate life threatening fear of leukemia is such an important thing to these patients.
Another member of CBER highlighted the impact of the documentary film "Until There's a Cure" that we premiered at the PFDD meeting.
It was so captivating. So touching. I could not get my eyes off the screen. My whole team was watching. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting.
She added that is was immensely valuable to hear directly from patients. She appreciates having heard from patients what clinically meaningful benefits would be, in hopes of ameliorating the main issues and concerns of patients; and at the same time acknowledging that there are other aspects of the disease that impact quality of life.
The recording of the PFDD meeting on the meeting page includes the full documentary. A separate page dedicated to the film will be available soon. For more information and to request a private screening, email us at connect@sdsalliance.org.
International Scientific Congress on Shwachman-Diamond Syndrome, Cincinnati - June 5-8, 2025
Following the PFDD meeting, the scientific community hosted the 11th International Scientific Congress for SDS. We posted our reflections in a recent blog post here.
The SDS Congress takes place every other year, alternating between Europe and North America, and is hosted by different Key Opinion Leaders in the SDS field each time. This year, it was hosted by Drs. Kasiani Myers and Stella Davies (Cincinnati Children's Hospital Medical Center). A formal summary is forthcoming from the organizing team. Here, we share our reflections for patients and the community who were not able to attend. There was no recording or remote access offered. We shared our reflections in a recent blog post.
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