Earlier stem cell transplants may improve survival in rare inherited bone marrow disorder

A study published in The New England Journal of Medicine suggests that early stem cell transplants may improve survival rates for patients with a rare inherited bone marrow disorder called Shwachman-Diamond syndrome (SDS). Currently, about 90% of children born with SDS survive beyond age 20, but only 30% live past age 50. The study, co-led by Kasiani Myers of Cincinnati Children's, and involving 26 other researchers, found that hematopoietic cell transplants (HCT) should be performed shortly after detection of certain high-risk features, such as mutated bone marrow cells or signs of progressive dysplasia.

Waiting until patients develop more threatening conditions like myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) may be too late. SDS is caused by a mutated gene passed from both parents to the child, and can affect various organs, but often leads to MDS or AML. The study analyzed data from 847 patients and found that two-year survival after HCT was 82% in high-risk patients treated before malignancy, compared to 55% after MDS and 36% after leukemia.

Early care for SDS includes frequent visits, supplements, and treatment for low blood cell counts. The research team hopes that increased awareness of testing for high-risk biomarkers will allow earlier treatment, especially as genetic screening becomes more common. However, stem cell transplants can be expensive and carry risks, limiting access in some areas.

Further research is needed to determine the ideal age and risk factors for HCT, and to explore alternative therapies.