More than 90% of children born with the rare bone marrow condition called Shwachman-Diamond Syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50.
However, longer-term survival could be improved by intervening upon earlier signs of high risk, according to a study published Sept. 23, 2026 , in The New England Journal of Medicine.
The study was co-led by Kasiani Myers, MD , Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children's. Co-authors included 26 fellow researchers involved in the International SDS Research Consortium.
Their findings suggest that performing hematopoietic cell transplants (HCT)—sometimes in patients aged 14 and younger—should occur shortly after detecting certain "high risk features" such as the presence of clones of mutated bone marrow cells or signs of progressive dysplasias. Currently, clinicians tend to wait until patients develop more threatening conditions such as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).
"For patients with this rare condition, waiting until malignancies are diagnosed may be too late," Myers says.
What Is Shwachman-Diamond Syndrome?
SDS is a rare genetic disorder that requires both parents to pass a mutated gene to their child, most commonly a mutated form of the gene SBDS. About 400 patients in the United States have the condition, according to the Shwachman-Diamond Syndrome Foundation. However, some advocates believe the number could be as high as 3,000 due to undiagnosed or misdiagnosed cases.
The condition can affect the pancreas, skeletal system, liver, and central nervous system, but its most serious outcome is development of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The disease name comes from two doctors who described it in 1964: Harry Shwachman, MD, and Louis Diamond, MD.
Standard prenatal and newborn screening tests do not screen for SDS, so the inherited condition is usually detected during infancy via physical exams and blood tests. Symptoms include problems eating, failure to thrive, abnormal blood counts, missing digestive enzymes, delayed tooth development, scoliosis, frequent infections and other signs.
Early on, care involves frequent clinic visits, pancreatic enzyme supplements, antibiotics for infection, addressing low white blood cell counts, specialty dental care, and more. Over time, the risk of developing leukemia increases.
Study Details Outcomes
The international team assembled the largest known collection of data about SDS outcomes; based on 847 cases involving people ranging from infancy to beyond age 50.
While the incidence of potentially lethal malignancies was as low as 2% for 5-year-olds, the cumulative risks of MDS, AML and bone marrow failure were nearly 78% by age 50.
Importantly, survival appeared to improve when early HCT treatment occurred. For example, of 24 high-risk patients, nearly 82% were alive at two years post-HCT treatment vs. 55% if MDS had already been diagnosed vs. 36% if AML had arisen.
"These data support surveillance and early HCT for patients who develop high-risk features to preempt malignancy," the co-authors state.
Looking Ahead
The rising global use of genetic screening tests may help reveal more children born with Shwachman-Diamond Syndrome, which may allow earlier-stage treatment. Meanwhile, the research consortium members hope to raise wider awareness about the testing needed to detect high-risk biomarkers of SDS.
However, stem cell transplants can be expensive and pose their own risks of complications, potentially limiting access for young people in low-resource areas. Kasiani says more research is needed to determine the ideal age and risk factors for moving forward with HCT, and whether alternative therapies can be developed.
About the Study
Funding sources for this project include the National Institutes of Health (R24AI162637 and RC2DK122533); a Cancer Research UK Discovery Award; the UK Medical Research Council; the Rosetrees Trust; and a European Cooperation in Science and Technology Action grant.
Myers declares that she is a consultant for Athernal Bio and that she has received research support from Elixirgen Therapeutics and Incyte. Other co-authors have noted their conflict-of-interest declarations in the paper.
