In this issue: SDS Alliance brings the patient voice to two scientific conferences this month. One focused on inherited bone marrow failure syndromes and the other on congenital neutropenias, both disease categories covering Shwachman-Diamond Syndrome. Here we provide a brief overview of these two informative conferences that spark new collaborations.
Welcome to our 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you!
ESH-EBMT-EHA-IPIG 3rd Translational Research Conference BONE MARROW FAILURE AND LEUKAEMIA PREDISPOSITION SYNDROMES
This month, international bone marrow failure and leukemia predisposition syndrome experts gathered in Paris for the biannual ESH-EBMT-EHA-IPIG 3rd Translational Research Conference BONE MARROW FAILURE AND LEUKAEMIA PREDISPOSITION SYNDROMES to discuss advances in the field and opportunities for progress. Dr. Hars from the SDS Alliance had the opportunity to catch up on the latest science and leading experts, many on the SDS Alliance Scientific and Medical Advisory Board.
Presentation Highlights Relevant to Shwachman-Diamond Syndrome
Dr. Coleman Lindsley (Boston) shared an overview of the role of CHIP in allogeneic stem cell transplant and bone marrow failure, along with other international researchers covering other aspects of stem cell biology and leading to a insightful discussion.
Dr. Lisa McReynolds (NCI, Bethesda, MD, USA) highlighted genome first approaches to uncovering leukemia etiology, complementing insights into inherited predisposition to leukemia.
Dr. Alan Warren (Cambridge, UK) provided an overview of his work on Shwachman-Diamond Syndrome and the molecular interplay of clonal evolution in ribosomal disorders and inspired a lively discussion on the session topic.
The full program is available here.
Connecting with Shwachman-Diamond Syndrome Key Opinion Leaders
We had the opportunity to catch up with the wonderful SDS experts and key opinion leaders above, as well as with Dr. Kas Myers (Cincinnati, OH, US) regarding the North American SDS Registry's work and plans for the coming year, new opportunities to collaborate with St. Jude under Dr. Marcin Wlodarski (St. Jude, Memphis, TN, US) leadership, the work of the Inherited Bone Marrow Failure Study at the NCI (NIH) under the leadership of Dr. Sharon Savage (Bethesda, MD, US), and an exciting new startup company looking to develop new treatment options for p53 driven AML (leukemia, blood cancer).
SDS Alliance shares abstract to highlight resources
The Shwachman-Diamond Alliance submitted an abstract to this conference which was accepted and published in the conference book, titled:
FROM CHALLENGE TO OPPORTUNITY: HOW SHWACHMAN-DIAMOND SYNDROME BECAME READY FOR TRANSLATION AND A PROMISING TARGET FOR THERAPY DEVELOPMENT, AND THE ROLE OF PATIENT ADVOCACY
The objectives of this landscape analysis and strategic plan are to determine what the
challenges are to advance therapy development for Shwachman Diamond Syndrome, and how to overcome them to create new opportunities to improve patient lives.
Shwachman-Diamond Syndrome Alliance is a nonprofit research-focused patient advocacy organization that drives and accelerates therapy development focused on eliminating the leukemia risk posed by SDS. As part of this work, we surveyed the SDS research and community landscape to identify roadblocks to therapy development and developed tools and strategies to overcome them. This has led to the creation of several strategic programs.
Our work can be categorized into four categories: model system development, regulatory engagement, patient community development, and data generation and access. Specifically, in our abstract we shared updates on:
Mouse Model System Development: We have successfully launched multiple projects to develop a functioning mouse model for SDS. The first type of model humanized the SBDS gene. Surprisingly, this turned out to be embryonic lethal. Currently, we are working with Jackson Laboratory to test multiple strategies to overcome the embryonic lethality. We are also working on iPSCs engraftment murine models with a collaborator. More details coming soon.
US ICD-10 code for Shwachman-Diamond Syndrome. We have successfully advocated for the code, and continue its promotion. The code has now been applied to over 515 patients in the US since its implementation a year ago.
We have created a global patient survey platform (global patient registry) to capture the lived experience of patients and caregivers as reported by them, amplify their voice and inform translational and therapy development work, and serve to connect patients with relevant clinical research and trials (recruitment support). It is IRB approved, GDPR compliant, with proper consenting workflows in place. Our pilot cohort demonstrated feasibility and it is now fully launched in 5 languages. We look forward to creating new collaborations with the translational research community.
The other wonderful meeting we had the great pleasure to attend was the:
5th National Neutropenia Day: Sharing the experience and providing better care
This is a meeting conducted by the French Neutropenia Registry by Dr. Jean Donadieu and Blandine Beaupain, every year or two, with a day for physicians and researchers, and a day for patients and all interested parties.
Part 1 focused on an overview and update from the French Neutropenia Registry
by B. Beaupain (Reference Center - APHP Trousseau, Paris).
Part 2 focused on clinical / therapeutic trials in neutropenia: alternatives to GCSF and bone marrow transplantation
Mavorixafor in WHIM syndrome and chronic neutropenia J. Donadieu (Reference Center - APHP Trousseau, Paris)
HPV viromes and plerixafor C. Deback, (Université Paris Saclay)
iSGLT2: for G6PC3 and GSDIb neutropenia: French cohort and literature data J. Donadieu (Reference Center - APHP Trousseau, Paris)
Elamipretide in Barth syndrome E. Panaioli (APHP Necker, Paris)
Biological news on LGL leukemia C. Pastoret (Hôpital Pontchaillou, Rennes)
Part 3 focused on the genetic and functional aspects
Contribution of exome and genome sequencing in the diagnosis of neutropenia S. Marti (APHP Pitié Salpêtrière, Paris)
ADA2: clinical aspect, functional aspect I. Meyts (Leuven University Center)
WHIM: Role of inflammaging in anti-infectious and vaccine responses C. Moulin (APHP Saint Louis, Paris)
GATA2 deficiency: from somatic mutations to the indication of transplantation M. Pasquet, L. Largeaud, (Toulouse CHU and Oncopole), F. Sicre de Fontbrune (APHP St Louis, Paris)
Functional aspects of Signal Recognition Protein anomalies L. Durix (Institut Gustave Roussy, Villejuif)
Day 2, morning session focused on questions and answers, and a short introduction and discussion with the audience
Generalities: the Reference Center, the registry and the PNDS: a structure for 30 diseases: what's new? J. Donadieu & B. Beaupain (Reference Center - APHP Trousseau, Paris)
Organization of diagnostic opinions in France: Multidisciplinary Consultation Meetings or how to offer relevant opinions for diagnosis and care J. Donadieu & B. Beaupain (Reference Center - APHP Trousseau, Paris)
Organization of myeloid monitoring: common use of myeloid NGS for monitoring leukemia risk P. Hirsch (APHP Pitié-Salpêtrière, Paris)
Improving oral dental care M. Biosse-Duplan (APHP Bretonneau)
Alternative to GCSF: example of G6PC3 neutropenia and Glycogenosis Ib J. Donadieu (Reference Center - APHP Trousseau, Paris)
The afternoon was dedicated to breakout/ DISCUSSION GROUPS: feedback and questions
Shwachman syndrome: various questions A. Trognon (CLINICOG, Nancy)
Chronic neutropenia: managing daily life in adults and children: treatment, transplant and follow-up / Various questions F. Sicre (APHP St Louis), N. Aladjidi (CHU Bordeaux)
Barth syndrome: Elamipretide: interest, perspective of care and management in the daily life of patients
The discussions in the SDS breakout room were heavily focused on the challenges adult SDS patients face when pursuing an education and career. In France, it can be very difficult to advocate for flexible schedules and other accommodations. Dr. Hars contributed an US perspective. Dr. Donadieu emphasized how very important family support is for SDS patient's success at all stages of life.
Dr. Hars prepared a presentation about the SDS-GPS program (in French!) but decided to share the recording after the meeting as to not interrupt the lively discussions.
After the meeting, Dr. Donadieu and Blandine Beaupain offered a tour through the registry. They have an impressive amount of well organized records. The French Neutropenia registry is a role model in consistent, high quality data, along with a high enrollment rate. Blandine travels to various hospitals around France to collect the records and enter them into the system. Genetic and other testing are performed in a central lab, ensuring high quality and consistency.
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