Shwachman-Diamond Syndrome Clinical Trials 2026 — Find Recruiting Studies

About Shwachman-Diamond Syndrome

Shwachman-Diamond syndrome is a multisystem inherited bone marrow failure syndrome caused most commonly by biallelic mutations in the SBDS gene, which encodes a protein involved in ribosome assembly and mitotic spindle stabilization. The condition is characterized by the triad of exocrine pancreatic insufficiency, skeletal abnormalities, and bone marrow dysfunction manifesting as neutropenia, thrombocytopenia, and risk of aplastic anemia or progression to myelodysplastic syndrome and acute myeloid leukemia. It is the second most common inherited bone marrow failure syndrome after Fanconi anemia.

Common Clinical Features

Exocrine pancreatic insufficiency causing malabsorption and failure to thrive Chronic or intermittent neutropenia with recurrent infections Thrombocytopenia and anemia of variable severity Skeletal dysplasia including metaphyseal dysostosis and short stature Elevated risk of MDS and AML transformation Fatty replacement of pancreatic parenchyma on imaging Hepatomegaly with elevated transaminases in infancy Learning difficulties and cognitive challenges in some patients

Clinical Trial Eligibility Tips

What to know before applying to Shwachman-Diamond Syndrome trials.

SBDS gene mutation confirmation (most commonly c.183-184TA>CT and c.258+2T>C compound heterozygous mutations) with pancreatic function testing results (fecal elastase) are required for most trial enrollment.

Hematologic monitoring data including serial complete blood counts, bone marrow biopsies, and cytogenetic studies (particularly for monosomy 7 and isochromosome 7q) are critical for MDS-related trial eligibility.

Nutritional status, growth parameters, and enzyme replacement therapy history are relevant to trials assessing hematopoietic outcomes and should be documented thoroughly.