Reflections from Cincinnati 2025 and impact of the patient voice
- Eszter Hars, Ph.D., President and CEO, SDS Alliance
- Jun 23
- 20 min read
Updated: Jun 25
Cincinnati welcomed two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome, elevating the patient voice in therapy development.
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!
Cincinnati welcomed two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome.
Externally-Led Patient Focused Drug Development Meeting (SDS PFDD) - June 4th, 2025
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. 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! Please share your insights and feedback to be included in the report by July 4th. All details are available at on the SDS PFDD event page at www.sdsalliance.org/pfdd.
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 attendance of the SDS EL-PFDD meeting.
International Scientific Congress on Shwachman-Diamond Syndrome, Cincinnati - June 5-8, 2025
Details are available on the congress website at www.sdscongresscincinnati.com, including the agenda: www.sdscongresscincinnati.com/content/docs/2025/agenda.pdf
The SDS Congress takes place every other year, alternating between Europe and North America, and 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.
Day 1
The first day of the SDS Congress in Cincinnati,OH kicked off on June 5th, 2025 with a session chaired by Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center) & Akiko Shimamura, MD PhD (Boston Children's Hospital), titled: Living with SDS.
Dr. Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center), sat down with Brittanya, Jayden’s mom, for a chat to hear their story and insights into their experience with SDS and transplant. Brittanya also shared their story at the SDS EL-PFDD meeting on June 4th, which was recorded and is publicly available at www.sdsalliance.org/pfdd. Her statement starts at 4:22 in the raw recording.
Next, Dr. Stella Davies, MBBS, PhD, MRCP (Cincinnati Children's Hospital Medical Center) moderated a Panel Discussion on the Needs of the SDS Community, followed by a Panel Discussion, moderated by Akiko Shimamura, MD, PhD (Boston Children's Hospital) on Where should the focus be in SDS research.
After a short break with refreshments and networking, the meeting shifted gears to the next session: Transitioning from Pediatrics to AYA/Adult, chaired by Alan Warren, MBChB, PhD (University of Cambridge) & Timothy Olson, MD, PhD (Children's Hospital of Philadelphia)
First, we heard a great presentation on Adult phenotypes of SDS by Christopher Reilly, MD (Dana-Farber Cancer Institute). He emphasized the importance of screening for clones using rapid heme panels throughout the life of individuals living with SDS, including adults, AND the importance of germline testing for SDS when adults present with unusual blood issues.
Next, we heard from Daria Babushok, MD, PhD (University of Pennsylvania) about Transition [from pediatric to adult care for patients with] Inherited BMF syndromes. She provided an overview of the team at Penn Medicine, including pediatric and adult specialists, and explained how they collaborate to optimize patient care. Several SDS specialists from the audience contributed to the discussion about how their institutions address these needs, including pediatric providers actively building connections with adult providers in their geographic locations, organizing monthly meetings, and calling for the creation and sharing of a list of adult specialists. One pediatric provider highlighted the challenges of transition when young adult patients go off to college for just a few years, and trying to find an appropriate provider during that time, far from home.
The session concluded with two selected oral abstract presentations. Oral abstract presentations are brief, focused presentations selected from the abstracts submitted to the conference in advance, and are invited as a presentation rather than a poster.
Sabine Mellor-Heineke, MD, (Severe Chronic Neutropenia International Registry), shared her work on Being an Adult with Shwachman Diamond Syndrome- An Analysis of the German Cohort of the Severe Chronic Neutropenia International Registry/SDS-Registry Europe. They administered a survey to the German adult SDS cohort to learn about Quality of Life. A surprising learning was that the adults who responded seem to be doing better than the expected cross-section of patients, probably because these patients were better positioned to respond to the survey. They also reported on a successful haploidentical transplant after AML.
Yang Wan, MD, (Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College), presented an overview of Clinical Characteristics of 121 patients with Shwachman–Diamond Syndrome in China — Result from Childhood Bone Marrow Failure Diseases Register of China Alliance for Blood Diseases (cBMFR-CABD). The program includes 16 institutions. 6% of the patients were diagnosed as adults. 37% went through transplant. They have good experience with cord blood stem cells in transplantation, with less graft-versus-host disease (GvHD).
The last activity of the day was a very fun Interactive SDS Jeopardy with members of the audience drawn from a bowl, hosted by Stella Davies, MBBS, PhD, MRCP (Cincinnati Children's Hospital Medical Center), Jane Koo, MD (Cincinnati Children's Hospital Medical Center), and Nicholas Gloude (UCSD/Rady Children's). The questions and answers were very lighthearted, filled with humor, and all participants received cute and sparkly stuffies as prices.
Day 1 concluded with a dinner at the venue for families, sponsored by SDSF.
Day 2
The second day started off with a focus on Ribosomes. First, a session on Ribosomal Biology, chaired by Nicholas Gloude, MD (UCSD/Rady Children's) and Johanna Rommens, PhD (The Hospital for Sick Children).
First, we heard a dynamic and entertaining presentation on Protein synthesis and Homeostasis in Hematopoietic Stem Cells by Rob Signer, PhD (University of California, San Diego). He highlighted the role of proteostasis in ageing, bone marrow failure, stem cell biology, and cancer.
Next, Alan Warren, MBChB, PhD (University of Cambridge) shared his work on Targeting the Ribosome, focused on advances in high-resolution insights into the Ribosome structure and maturation. He also shared updates relevant to therapeutic development. For a background, check out Dr. Warren’s presentation we shared at SDS POPS 2023. During the discussions, he highlighted a groundbreaking program in the UK to promote genomics-based Newborn Screening by Genomics England. We covered this program and newborn screening at SDS POPS 2024. Learn more here: https://www.genomicsengland.co.uk/initiatives/newborns. While no new SDS patients have yet been identified through the program, we expect some diagnoses as more sequencing is completed.. The discussion following Dr. Warren’s talk included a call for identifying endpoints in clinical trials, suggesting that neutrophil counts, growth, cellularity, and protein synthesis could serve as readouts. An SDS mom asked about how a small-molecule therapy could compare to gene therapy. Dr. Warren explained that a small molecule could potentially address issues in more organ systems, and not be limited to the bone marrow only (as current gene therapy approaches would).
Last, we heard a Selected Oral abstract presentation.
Johanna Rommens, PhD (The Hospital for Sick Children), shared her work on the occurrence, origins, and disease liability of genetic variation in the major Shwachman-Diamond syndrome gene, SBDS. She shared her insights from analyzing large genomic databases, such as gnomAD. We have previously covered this type of work based on our collaboration with the Broad Institute of MIT and Harvard. Learn more here.
The next session focused on Related Ribosomopathies, chaired by Stefano Biffo, PhD (Instituto Nazionale Genetica Molecolare), and Steve Bruner, PhD (University of Florida). This session was more technical in nature, focused on basic science and research.
Stefano Biffo, PhD (Instituto Nazionale Genetica Molecolare), presented on EIF6 and SBDS, sharing new advances in crystal structures.
Steve Bruner, PhD (University of Florida) shared his work on the Biology of SRP54, and learning from worms (C. elegans) as a model.
Selected Oral abstract presentations included work by
Alexis Bertrand, PhD (Feinstein Institute), on the Functional characterization of somatic genetic rescue-associated eIF6 mutants in the Shwachman-Diamond syndrome context
Ibrahim Taha, MD, (University of Pavia), Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
Sofia Origanti, PhD (Saint Louis University), was on the schedule to share her work on Mechanistic insight into eIF6 and SBDS mutations, but wasn’t able to attend.
After a short break, the topic shifted to Novel Models of SDS, chaired by Marc Raaijmakers, MD PhD (Erasmus Medical Center Cancer Institute) -who wasn’t able to join - and Dr. Yigal Dror, MD, FRCPC (Toronto Sick Kids)
Dr. Marc Raaijmakers, MD PhD (Erasmus Medical Center Cancer Institute) talk on Stromal Biology and SBDS was cancelled, as he wasn’t able to join in person.
David Chou, MD, PhD (Wyss Institute, Harvard) shared his work on modeling IBMF on a Bone Marrow Chip. See his publication from 2020 for a great overview. At the meeting, he shared how this type of system could be used for a small-molecule drug screen and what they had learned from molecules identified in a small-scale drug screen.
Selected Oral abstract presentation included a presentation by Eszter Hars, PhD (Shwachman-Diamond Syndrome Alliance), on Modeling Shwachman-Diamond Syndrome (SDS): An update on humanized transgenic mice and engraftment models using human pluripotent stem cells (iPSCs) differentiated into hematopoietic cells with engrafting capacity. Presentation slides are available upon request, and we will share the entire presentation at SDS POPS 2025! Earlier results were shared at SDS POPS 2024.
After lunch, the conference continued with the Peter Durie Memorial Keynote Lecture by Akiko Shimamura, MD, PhD (Boston Children's Hospital), titled Shwachman Diamond Syndrome: Tackling a Rare Disease. Dr. Shimamura shared an overview of the discovery and history of Shwachman-Diamond Syndrome research and treatments, celebrating the great contributions of generations of experts in the field. She emphasized that the current goals of the community include
Advancing diagnosis
Identifying and treating medical issues
Preventing complications, and
Improving quality of life
Dr. Shimamura highlighted the impact of the SDS registry and recent advances in the field. Recent publications and presentations are available on the SDS Registry website in the researcher section. Key publications are also available on the SDS Alliance website at www.sdsalliance.org/diagnostic-and-treatment-guidelines, and a patient/family-friendly educational video on clones (adaptive and maladaptive) is available on our science page at www.sdsalliance.org/science.
The discussions also covered barriers to surveillance and opportunities to address them.
A key question in SDS is: What is the lifetime risk of leukemia in SDS? Dr. Shimamura highlighted recent collaborative work in which multiple international registries, researchers, and clinicians collaborated to pool sufficient data to answer this question. See more in Dr. Jean Donadieu’s presentation on Day 3. Collaborators include researchers and clinicians from Australia, China, Finland, France, Europe, Greece, Ireland, Italy, Japan, the Netherlands, the UK, and the US. Some results were published at ASH 2024.
There is good news on the transplant front: Treosulfan has been approved by the FDA earlier this year in the US, removing barriers to access this drug as part of a transplant regimen, following positive results and years of experience using it in Europe. However, as alluded to above and in many presentations and publications, transplant outcomes are still very poor AFTER AML develops in SDS.
Other ongoing studies and results will be shared by the SDS registry at a later time.
After a networking and refreshments break, the congress program continued with a session on Novel Strategies for SDS, chaired by Allison Bertuch, MD, PhD (Texas Children's Hospital) and Helen Reed, MD, MPH (Boston Children's Hospital).
First, we heard an exciting presentation on Gene Therapy for SDS by Dan Bauer, MD, PhD (Boston Children's Hospital). He highlighted current challenges with “regular” transplants, such as the limited availability of donors, the lengthy process, and the risks associated with being immunocompromised for an extended period. Gene therapy may be able to address several of these challenges. In particular, Dr. Bauer’s work focused on Gene Editing based on CRISPR. Therapeutic gene editing for SDS may be able to overcome the fitness defect of SDS cells, with the hope that a moderate level of editing may be sufficient. Preliminary results look promising. He is also exploring Prime Editing, an approach that may work even better in hematopoietic stem cells that don’t actively divide. For a video overview, see Dr. Bauer’s presentation at SDS POPS 2025.
Next, we learned about Genetic Bone Disease in SDS through a presentation by Christina Jacobsen, MD, PhD (Boston Children's Hospital). She showed radiographs of the bone defects in SDS, explained skeletal dysplasia in SDS, and suggested ways to reduce the risks, such as maintaining adequate Vitamin D levels, calcium intake, and regular exercise.
Selected Oral abstract presentations:
Helen Reed, MD (Dana-Farber Cancer Institute), shared insights into Genetic Re-evaluation of SDS-like and Neutropenia Conditions. The study enrolled over 100 patients with clinical phenotypes who are part of the SDS registry or BMF study, but have no genetic diagnosis. They received Whole Exome Sequencing or Whole Genome Sequencing through a collaboration with the Broad Institute of MIT and Harvard. About ⅓ were able to receive a diagnosis of a genetic cause for their symptoms, and ⅔ were highly suspicious. Dr. Reed presented two cases as examples.
Helena Yu, MD (UCSD/Rady Children's Hospital) presented on Dynamic Changes in Proteostasis Network Activity Influence Hematopoietic Stem Cell Ontogeny and Fitness, expanding on an earlier presentation by her PI, Rob Signer.
The day concluded with a fancy, 1920s-themed Gala Dinner at the Cincinnati Museum Center. Several key opinion leaders and young investigators received awards.
The host and location of the next International SDS Congress were announced: Paris 2027, hosted by Dr. Jean Donadieu.
Day 3
The first session, focused on Translational Studies and Evolving Phenotypes of SDS, was chaired by Daria Babushok, MD, PhD (University of Pennsylvania), and Tarek Elghetany, MD (Texas Children's Hospital).
Wei Tong, PhD (Children's Hospital of Philadelphia) shared new insights into the role of ZNF622 in hematopoietic stem/progenitor cells and Shwachman–Diamond Syndrome (SDS).
Timothy Olson, MD, PhD (Children's Hospital of Philadelphia) provided a great overview of Murine models of SDS. His lab focuses on the bone marrow niche, megakaryocytes, mesenchymal niche cells, osteolineage cells, and their impact on hematopoiesis.
Selected Oral abstract presentations:
Seth Corey, MD, MPH, (Cleveland Clinic) presented a talk titled: Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and the Anna Karenina principle, discussing commonalities and differences between ribosomopathies. Dr. Corey also covered his lab’s work on developing a zebrafish model for SDS and highlighted the benefits of the model in SDS research.
Jane Koo, MD (Cincinnati Children's Hospital Medical Center) shared work on Creating specific growth charts for children and young adults with Shwachman-Diamond Syndrome: A study from the North American Shwachman-Diamond Syndrome Registry. Results will hopefully be published soon and be available to the community. Earlier last year, the Italian SDS registry published new growth charts. See details in our blog.
The next session focused on Multi-Organ Complications of SDS, chaired by Amit Grover, MD (Boston Children's Hospital) and Jane Koo, MD (Cincinnati Children's Hospital Medical Center)
Amit Grover, MD (Boston Children's Hospital), provided a great overview of Gastrointestinal Phenotypes in SDS. He shared insights into the pathophysiology of Exocrine Pancreatic Insufficiency (EPI) and inflammation in SDS. He provided insights into diagnostic tools for EPI, discussing what they can help learn and their limitations, citing a 2022 article by Kan et al. He noted that even with optimal Pancreatic Enzyme Replacement Therapy, there may still be malabsorption, reduced ADEK levels, and growth challenges.
Adrianna Vlachos, MD (Johns Hopkins All Children’s Hospital) shared her insights regarding Non-Hematologic disease in DBA: Lessons from the DBA Registry, including how data sharing for larger cohorts is necessary for better insights.
Selected Oral abstract presentations:
Jane Koo, MD, (Cincinnati Children’s Hospital Medical Center), shared insights into the Gastrointestinal and hepatic manifestations of Shwachman-Diamond Syndrome: A report from the North American Shwachman-Diamond Syndrome Registry. The focus of the talk was the liver. The group analyzed medical records of over 200 genetically confirmed SDS patients enrolled in the SDS registry. Approximately 30% of individuals have EPI, and many also exhibit elevated transaminases (elevated liver enzymes). More than half have elevated ALT, indicative of liver injury, and less than half have resolved by age 13. The structure and size of the liver appear mostly normal, but there is evidence of inflammation. We look forward to the publication and sharing of the results in the near future, as Dr. Koo has published similar research on Fanconi Anemia.
After a short break, the next session focused on Neurodevelopment in SDS, chaired by Elizabeth Kerr, PhD (Toronto Sick Kids) and Thea Quinton, PhD (Cincinnati Children's Hospital Medical Center)
Elizabeth Kerr, PhD (Toronto Sick Kids), focused on Neurodevelopmental phenotypes of SDS. SDS is considered a neurodevelopmental disorder (NDD). Dr. Kerr reviewed previous imaging work on morphological changes in the brain, such as the reduced size of white and gray matter, citing a 2015 article by Parobelli et al.. While about 10-15% of the general population have a developmental delay and usually catch up, in SDS, about 50% have a developmental delay. There can be a range of psychosocial and cognitive issues, which can be categorized into intellectual function, language, memory, executive function, and visual and spatial processing. New research in IDDs is developing a framework to systematically assess these areas. There are survey-based screening tools to assess these areas. A patient-friendly presentation by Dr. Kerr is available through the SDSF Live series.
Next, Thea Quinton, PhD (Cincinnati Children's Hospital Medical Center), moderated an interactive panel on addressing neuropsychological needs in SDS, particularly during the school-age years. SDSF Live has hosted Dr. Quinton for a patient-friedly talk.
Selected Oral abstract presentations
Arthur Trognon, PhD, (CLINICOG), Pragmatic and Cooperative Profiles in Shwachman-Diamond Syndrome: Insights from Computational Modeling. While the cognitive and medical characteristics of Shwachman-Diamond Syndrome (SDS) are well-characterized, its impact on cooperative behaviors in social contexts remains poorly understood. This study explores the socio-pragmatic strategies of SDS children during task-based interactions. A cohort of 10 children (5 with SDS, 5 controls) participated in cognitive and ecological tasks and were scored. SDS children displayed a unique cooperative profile, prioritizing personal economic benefits over established social norms. Unlike controls, SDS children’s behaviors were minimally influenced by task directiveness. Unfortunately, Dr. Trognon’s talk was cut short due to timing issues. Read more about Dr. Tragnon’s work on SDS in his recent article, here.
Grace Lynch, (Shwachman-Diamond Syndrome Alliance), Understanding the Lived Experiences, Needs, and Stories (LENS) of Shwachman-Diamond Syndrome Patients and Caregivers: Insights to Inform Research, Clinical Care, and Advocacy. Grace provided an overview of the study, explained the methods used, and showed some preliminary results. Her slides and abstracts are available upon request. She and Ashley have presented an introduction to the SDS LENS study at SDS POPS 2024. They are still looking to add a few more adults living with SDS. Visit www.sdsalliance.org/lens for details or email us at lens@sdsalliance.org.
In the afternoon, the next session focused on Clonal Evolution in SDS, chaired by Alyssa Kennedy, MD, PhD (St. Jude's Children's Hospital) and Chris Reilly, MD (Dana Farber Cancer Institute)
Alyssa Kennedy, MD, PhD (St. Jude's Children's Hospital) reviewed Clonal Evolution and TP53 in SDS, based on her landmark publication with Dr. Coleman Lindsley. Check out our video explainer here. This work and others support the need for thorough surveillance of SDS patients with acquired mutations at all ages. See an important article by Drs. Reilly and Shimamura, here.
Felicia Andresen, MD (Boston Children's Hospital), introduced her work with the SDS registry on Alternative Pathways for Clonal Evolution in SDS. For example, she shared how TP53 variant allele frequencies (VAFs) in bone marrow vs. blood relate to each other
Selected Oral abstract presentations:
Dritan Siliqi, MS, PhD, (Institute of Crystallography - Italian National Research Council), shared his work on Structural Implications of Missense Point Mutations in SBDS: Insights from a combined SAXS/MD investigation
The next session focused on Malignancies in SDS, chaired by Jean Donadieu, MD PhD (Hôpitaux de Paris) and Courtney Dinardo, M.D., MSCE (MD Anderson)
First, Tarek Elghetany, MD (Texas Children's Hospital), walked us through the challenges and complexities, as well as updates on Defining MDS in Inherited BMF. The WHO classifications/definitions keep on changing, and the approach (appearance vs. behavior) changes too.
Next, Jean Donadieu, MD, PhD (Hôpitaux de Paris) shared an update on Leukemia Risk in SDS: Results of an International Collaborative Study. The aim of the study is to
Determine the incidence of MDS and AML in individuals with SDS
Determine the outcomes after diagnosis with MDS and AML
Create a data set to analyze risk factors and predictive parameters
Increase the statistical power for risk estimation
They analyzed 849 subjects with confirmed SDS due to biallelic SBDS mutations. He noted that they would expect 3000 based on incidence data. Collaborators include researchers and clinicians from Australia, China, Finland, France, Europe, Greece, Ireland, Italy, Japan, the Netherlands, the UK, and the US. First insights were published at ASH 2024, titled: Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study, with authors Kasiani Myers, Jie He, Ben Goldberg, Christopher R. Reilly, Yang Wan, Xiaofan Zhu, Simone Cesaro, Marco Cipolli, Alison A. Bertuch, Candelaria O'Farrell, Kenichiro Watanabe, Antonis Kattamis, Polyxeni Delaporta, Melanie Cotter, Eoghan Dunlea, Taizo A. Nakano, Amy E. Geddis, Karyn Brundige, Ian Atkinson, Katherine Coyne, Sara Loveless, Leah Cheng, Edie Weller, Jean Donadieu, Akiko Shimamura, in Blood (2024) 144 (Supplement 1): 2703, with https://doi.org/10.1182/blood-2024-206661. The abstract concludes:
“Previously, consideration of transplant timing was limited by the paucity of data on cumulative incidence of malignancy with age in SDS due to the rarity of this condition. This international collaboration analyzed data from the largest cohort of SDS patients to date, and found that SDS is associated with a very high lifetime risk of myeloid malignancy exceeding 50% by age 50 years. This study provides data to guide discussions of surveillance and early interventions, including hematopoietic stem cell transplant for SDS patients with evidence of impending malignant transformation prior to progression to malignancy. Development of optimal surveillance approaches for early diagnosis of clonal evolution and novel treatments are sorely needed to develop effective strategies to intercept malignancy and improve survival in patients with SDS.”
Key takeaways
MDS and overt leukemia (MDS/AML) develop in up to 50% of SDS patients by age 50 years and account for up to 90% of early deaths in SDS
Transplant (HSCT) is effective before MDS/AML develops. HSCT is not an effective treatment for MDS/AML once it develops
National studies lack statistical power. INTERNATIONAL STUDIES are required to define who and when will benefit from transplant
The day concluded with a poster session, followed by drinks and appetizers.
There were several scientific posters displayed to foster discussions, including
Alison Bertuch, MD PHD (Baylor College of Medicine/Texas Children's Hospital) on SBDS influences homologous recombination, and Haploidentical transplantation in a patient with Schwachman-Diamond syndrome: A case report and review of the literature on behalf of Erin Morales, and by
Thea Quinton (Cincinnati Children’s Hospital Medical Center) on Longitudinal neurocognitive outcomes in a cohort of patients with Shwachman-Diamond Syndrome
Eszter Hars, PhD (Shwachman-Diamond Syndrome Alliance), titled SDS-GPS: A program to unite the global SDS research and patient community through a survey platform to accelerate therapy development and improve care.
New and unique this year was the inclusion of PATIENT Posters in the poster session. The posters were prepared by the SDS Alliance to facilitate conversations between patients/families and researchers/clinicians at this meeting, as well as at the SDS PFDD meeting and the Project PACER meeting on June 4th. They were very well received by all stakeholders. Thank you to all patients and families who participated in this project!
Day 4
The last day was short but impactful. The first session was focused on Surveillance/ Transplant Strategies in SDS, chaired by Adrianna Vlachos, MD (Johns Hopkins All Children’s Hospital) and Akiko Shimamura, MD PhD (Boston Children's Hospital)
First, Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center) shared an overview on Transplant for SDS and Inherited BMF. She emphasized the importance of an accurate and timely SDS diagnosis. 50% of patients don’t present with the classic symptoms of SDS. There are many asymptomatic siblings in the community. Therefore, if a person in a family is diagnosed with SDS and the parents are confirmed to be carriers, all siblings should be tested as well. She also noted that a mild phenotype of SDS doesn’t mean the patient is not at risk for MDS/AML. Even mild cases should receive regular surveillance. Hematopoietic stem cell transplant may be indicated for severe aplastic anemia or “high-risk features”. More details are available in this publication. Recent work has focused on improving outcomes for transplant. Outcomes remain poor for AML, but outcomes for transplant before MDS/AML have improved significantly. The final results of the Treosulfan trial, led by Dr. Laurie Burroughs, are expected early next year. Additional trials are also in the works. Dr. Myers shared results from the registry on transplant outcomes for patients with high-risk features and how clinicians determine when it's time for transplant. These results have not yet been published and will be shared at a later date. In short, the outcomes for transplant for patients with high-risk features are far better than for AML.
Next, Akiko Shimamura, MD PhD (Boston Children's Hospital) highlighted new insights into Surveillance and Timing of Transplant in SDS. She discussed the need for shared decision-making with patients and their families to find the right time, somewhere in between pre-emptive transplant and MDS/AML. MDS and AML can develop at any time; however, research indicates that the median age for MDS is 17 years and for AML, it is 28. A big challenge is that there is no CLINICAL test for clones that harbor biallelic TP53 mutations. Small clones (with VAF < 1%) can remain stable for many years; however, if they grow over time or consistently exceed 2-3%, they should be closely monitored. There are additional features that are considered high-risk and require expert assessment. More details are available in this publication.
The session wrapped up with a Panel Discussion, moderated by Stella Davies, MBBS, PhD, MRCP (Cincinnati Children's Hospital Medical Center)
The final session focused on Novel Approaches to MDS/AML in Inherited BMF, chaired by Zahra Hudda, MD (Cincinnati Children's Hospital Medical Center) and Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center).
Courtney DiNardo, M.D., MSCE (MD Anderson), discussed alternative strategies for AML in IBMF patients. Sadly, there is not much progress in this area, as outcomes are still very poor for AML in SDS. High-intensity regimens are not effective in this population. Lower intensity combinations work better, even in non-frail patients. There may be a role for sequential treatment to get patients to the transplant. She sounded optimistic that, in the next few years, better options may become available, as many trials are ongoing to improve AML treatment outcomes.
Zahra Hudda, MD (Cincinnati Children's Hospital Medical Center), introduced the concept of NK cell cellular therapies for AML. Acute myeloid leukemia (AML) is an aggressive hematologic malignancy with a high relapse rate and still limited therapeutic options, even in the general population, not just with SDS. Natural killer (NK) cell-based immunotherapy has the potential to improve outcomes for patients with AML. Recent preclinical studies and early-stage clinical trials aim to enhance the intrinsic anti-leukemic properties of NK cells by selectively targeting AML cells with chimeric antigen receptors (CARs). Read more in this review article.
The congress concluded with a “Town Hall” style discussion with the audience on What’s Next in SDS, and in particular, what the audience hopes for the next congress (Paris 2027). Patients and families shared their wish for more pro-active vs. ractive treatment options, integration of the patient voice into the research process, a focus on overal improvements in health (not just focus on the blood issues), better access to information from congress for patients and other stakeholders who are unable to attend in-peson (such as via summaries or virtual access) and also in a format that can be shared with healthcare providers. Doctors and researchers suggested a bigger focus on Quality of Life, research on pregnancy outcomes, international collaborations and studies, more clarity on diagnostics and classifications and high-risk features, more insights into cord blood use for transplants, and the ability for researchers/healthcare providers to attend congress virtually, and a concerted effort to work on biomarkers and outcome measures to accelerate therapy development.
Closing Remarks by Kasiani Myers, MD.
Stay tuned for a formal official summary by the congress organizers coming soon!
See you in Paris in 2027!
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