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Study identifier: NCT06056908 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

Shwachman Diamond Syndrome Registry and Study

Condition: Shwachman-Diamond Syndrome · Shwachman-Diamond Syndrome-Like  ·  Sponsor: Boston Children's Hospital

PhaseN/A
Planned participants5000
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersNo

About this study

Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS/SDS-Like diseases to develop better treatments and improve the health of patients with these conditions.

This description comes directly from the study's public registry record.

Talk to the study team

Akiko Shimamura, MD, PhD  ·  akiko.shimamura@childrens.harvard.edu

Karyn Brundige  ·  sdsregistry-dl@childrens.harvard.edu

Always discuss trial participation with your own doctor first.

Locations (4)

Children's Hospital ColoradoAurora, Colorado, United StatesRecruiting
Boston Children's HospitalBoston, Massachusetts, United StatesRecruiting
Dana-Farber Cancer InstituteBoston, Massachusetts, United StatesRecruiting
Cincinnati Children's Hospital Medical CenterCincinnati, Ohio, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT06056908