SAMD9L-related spectrum and myeloid neoplasm risk

MONDO:1060111

A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.

Also known as: SAMD9L-related spectrum and myeloid neoplasm risk

33 clinical trials for this condition and its sub-types, 1 tagged with SAMD9L-related spectrum and myeloid neoplasm risk itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Hereditary neoplastic syndrome (731)

Including sub-types (33) Tagged with SAMD9L-related spectrum and myeloid neoplasm risk (1)

Completed 1

New transplant cocktail aims to cut complications in bone marrow failure

Disease control Completed

This phase 2 trial tested a combination of treosulfan, fludarabine, and rabbit antithymocyte globulin before a bone marrow transplant in 40 people with bone marrow failure diseases like Diamond-Blackfan anemia and Shwachman-Diamond syndrome. The goal was to see if this conditioni…

Phase 2 • Sponsor: Fred Hutchinson Cancer Center • Aim: Disease control

Last updated Jun 27, 2026 11:00 UTC

SAMD9L-related spectrum and myeloid neoplasm risk

Where it sits in the disease tree

New transplant cocktail aims to cut complications in bone marrow failure