RecruitingNCT00027274
Blood
Shwachman-Diamond Syndrome
Also known as SDS, Shwachman-Bodian-Diamond syndrome, SBDS deficiency
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 co
ORPHA:811 ↗Gene SBDSPrevalence 1 in 76,000 to 1 in 200,000Onset Infancy; exocrine pancreatic insufficiency typically apparent in early infancyAutosomal recessive
4
studies recruiting now
as of 7 Sept 2026
21
studies registered in total
as of 7 Sept 2026
25
countries with a recruiting site
as of 7 Sept 2026
31 May 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT06056297
A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections
RecruitingNCT06056908
Shwachman Diamond Syndrome Registry and Study
RecruitingNCT06999954
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 thriveChronic or intermittent neutropenia with recurrent infectionsThrombocytopenia and anemia of variable severitySkeletal dysplasia including metaphyseal dysostosis and short statureElevated risk of MDS and AML transformationFatty replacement of pancreatic parenchyma on imagingHepatomegaly with elevated transaminases in infancyLearning difficulties and cognitive challenges in some patients
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Shwachman-Diamond Syndrome. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).