Shwachman-Diamond syndrome
MONDO:0009833Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Also known as: SDS, Schwachman-Diamond syndrome, Schwachmann-Diamond syndrome, Shwachman Diamond Syndrome, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond syndrome, pancreatic insufficiency and bone marrow dysfunction
5 clinical trials for this condition and its sub-types.
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New transplant method aims to reduce complications in bone marrow failure patients
Disease control OngoingThis study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…
Phase: NA • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New drug combo aims to make bone marrow transplants safer for kids
Disease control OngoingThis pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…
Phase: EARLY_PHASE1 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 12:39 UTC