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More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early signs of high risk, according to a study published, in The New England Journal of Medicine.

The study was co-led by Kasiani Myers, MD, of the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children's. Co-authors included 26 other researchers involved in the International SDS Research Consortium.

Their findings suggest that hematopoietic cell transplants (HCT) should be performed shortly after certain "high-risk features" are detected, sometimes in patients age 14 or younger. Those features include clones of mutated bone marrow cells or signs of progressive dysplasia. 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.

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 because of undiagnosed or misdiagnosed cases.

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