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SDS & Science Snapshots (2023-01-29)

In this issue: Expert consensus on the management of hematological complications in SDS by The European Society for Blood and Marrow Transplantation-Severe Aplastic Anaemia Working Party. Also, advances in newborn screening programs and the inclusion of Shwachman-Diamond Syndrome (SDS)

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 or message us on Facebook! This is all for you!

Expert consensus on the management of hematological complications in SDS by The European Society for Blood and Marrow Transplantation-Severe Aplastic Anaemia Working Party

A few months ago, the European Society for Blood and Marrow Transplantation-Severe Aplastic Anaemia Working Party published an expert consensus on the management of hematological complications in Shwachman-Diamond Syndrome patients. The study offers recommendations based on a thorough review of past publications and new data from Europe.

The key topics that the expert panel discussed and built consensus around were:

  • Indications for Hematopoietic Stem Cell Transplantation (HSCT) - what is prompting the need for a transplant

  • Hematological surveillance - how to determine the right timing for transplant

  • Type of HSCT

  • Source of graft - how to select the donor for a transplant

  • intensity and type of conditioning regimen, and - what medication and protocol to use to prepare SDS patients for transplant

  • Graft versus Host Disease (GVHD) prophylaxis - how to prevent or reduce the risk of GVHD, one of the most dangerous possible complications during transplant

We reached out to the lead author, Dr. Simone Cesaro, to ask him to share a summary with our community. Here is what he shared with us:

Severe malignant and non-malignant haematological complications may occur in patients affected by Shwachman-Diamond syndrome (SDS) determining a risk for the life. Overall, 10-20% of Shwachman-Diamond patients may need hematopoietic stem cell transplantation (HSCT) in some point of their life to treat these life-threatening complications but, given the rarity of SDS, most transplant centres have a limited experience or different approaches. The European Society for Blood and Marrow Transplantation-Severe Aplastic Anaemia Working Party promoted an expert consensus to propose recommendations regarding key issues in the management of Shwachman-Diamond patients with hematological complications: indication to HSCT, modality to prepare the patient to transplant (conditioning regimen), choice of the donor, and prevention of graft versus host disease. The analysis of published data revealed some aspects that may be relevant for the optimal management and a successful outcome of the patient: a regular and structured haematologic follow-up is fundamental to identify early the timing of transplantation, avoiding, possibly, HSCT when the patient has already developed an overt acute leukemia or myelodisplastic syndrome. These last conditions have a lower benefit from HSCT. Moreover, the risk of severe toxicity related to the transplant procedure can be contained by using reduced-intensity conditioning regimens, or limiting the use of full dose of total body irradiation, particularly for transplant procedure performed for non-malignant severe cytopenia/bone marrow failure. On the other hand, the SDS patients whith a malignant complication represent a difficult to treat subgroup of hematological patients because the efficacy of chemotherapy is inferior than that observed in non-SDS patients, highlighting the need for innovative approaches in this setting.

The results are sobering. Once AML develops in SDS patients, the treatment options are very limited and outcomes are extremely poor.

So what can we do? Of course, it would be best if we could prevent progression to MDS and AML altogether. And that is why the focus of the SDS Alliance is centered around that. But in the meantime, we need to take advantage of existing cutting-edge technology to help our patients, now. One of the biggest unresolved issues is whether surveillance - the routine testing of the bone marrow (or blood) can help catch changes early enough before leukemia develops - to be able to intervene with a bone marrow or HSCT transplant. Early results by Dr. Shimamura (SDS registry) and others suggest so. Check out last week’s blog post on the subject.

To make progress, we need large, carefully designed studies:

  • We need to agree on what we think the best strategy for surveillance is (such as frequency of sampling, blood vs. marrow, agreed upon list of variants to test; and monitor how many many transformations are still missed.)

  • Expand collaboration to as many international experts as possible.

  • And very carefully assess whether a transplant provides a benefit, and in what specific situations (indication for transplant, graft availability, etc).

Transplant protocols have come a long way with better outcomes than they used to, but they are still very toxic and dangerous for SDS patients and a tool of last resort. We hope that targeting specific types of clones, or the bad cells specifically, will be possible someday.


Cesaro S, Donadieu J, Cipolli M, Dalle JH, Styczynski J, Masetti R, Strahm B, Mauro M, Alseraihy A, Aljurf M, Dufour C, de Latour RP.

Transplant Cell Ther. 2022 Jul 20:S2666-6367(22)01472-5. doi: 10.1016/j.jtct.2022.07.010. Online ahead of print.

PMID: 35870777

Advances in newborn screening programs and the inclusion of Shwachman-Diamond Syndrome

One of the pillars of patient advocacy is striving to reduce and shorten the diagnostic odyssey. A faster and more accurate diagnosis means less suffering for patients and faster access to therapies and support.

Therapies and cures start with an accurate diagnosis - and that is another reason why we are working to increase the speed and access. Check out our blog post from last year for more details.

Today, we would like to draw your attention to newborn screening toward this goal. Newborn screening refers to public health programs in which infants are tested shortly after birth for a variety of conditions - traditionally conditions that are treatable, but not clinically evident in the newborn period. Read more on Wikipedia. These programs vary state by state, and country by country. We have looked into what it would take to get SDS covered in these traditional programs, and the hurdles and efforts necessary are insurmountable at this time.

Anyone who has a loved one with SDS knows instinctively that a faster and more accurate diagnosis would be priceless, even though we don’t have a cure (yet). Getting PERT (pancreatic enzyme replacement therapy) on board sooner to help our babies thrive is just one. Keeping an eye on the immune system and bone marrow, and initiating life-saving treatments in time, is another.

But there is good news on the horizon! Whole-exome sequencing (WES) based screening programs are being developed in many places. Some of them focus on babies who have obvious health issues and are in the NICU (neonatal intensive care unit). These programs are already showing that there is a huge benefit of these programs in reducing the time to diagnosis AND cost. Some other programs focus on expanding the traditional "standard" newborn screening (which covers only about 50 disorders) to use WES and cover thousands of disorders.

A pioneer in this field is Dr. Wendy Chung. She is spearheading the GUARDIAN study in NY to expand traditional “standard” newborn screening in the US to thousands of additional disorders.

Dr. Chung shared her insights and passion for the rare disease community in a new episode on the Once Upon A Gene podcast. If you haven’t subscribed yet, check it out. The podcast is hosted Effie Parks, the mother of a child with a rare disease. She highlights the unique experiences of parents raising children with disabilities and rare genetic disorders through conversations with remarkable parents, patient advocates, therapists, doctors and researchers.

We are so excited to share that we have connected with Dr. Chung to make sure that SDS is covered in the next edition of the GUARDIAN program. SDS will be covered in the new release of the study, available to new parents later this year! We will also work with her team to help spread the word and inform new families about the benefits of an early diagnosis, even for disorders that don’t have a “cure” yet. More on this and other outreach efforts coming soon!

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