Diamond-Blackfan Anemia Clinical Trials 2026 — Find Recruiting Studies

About Diamond-Blackfan Anemia

Diamond-Blackfan anemia is a congenital bone marrow failure syndrome characterized by selective red cell aplasia caused by heterozygous loss-of-function mutations in ribosomal protein genes, most commonly RPS19, which impair ribosome biogenesis and erythroid progenitor development. The condition presents in infancy with severe macrocytic anemia, reticulocytopenia, and near-absent erythroid precursors in an otherwise cellular marrow. Approximately 30-40% of patients have associated physical anomalies including craniofacial, upper limb, cardiac, and urogenital malformations, and there is an increased risk of myelodysplastic syndrome and solid tumors.

Common Clinical Features

Severe macrocytic anemia presenting in the first year of life Reticulocytopenia with absent erythroid precursors on bone marrow biopsy Pallor, fatigue, and poor feeding in infancy Craniofacial anomalies (cleft palate, hypertelorism) Upper limb abnormalities including triphalangeal thumbs Short stature and growth retardation Elevated erythrocyte adenosine deaminase (eADA) activity Increased cancer predisposition including MDS and osteosarcoma

Clinical Trial Eligibility Tips

What to know before applying to Diamond-Blackfan Anemia trials.

Genetic panel results identifying the causative ribosomal protein gene mutation are important for trial enrollment; approximately 35% of DBA cases remain genetically unexplained and may still qualify.

Corticosteroid response status (steroid-dependent, steroid-refractory, or in spontaneous remission) is a key stratification variable in DBA trials.

Transfusion burden (lifetime transfusions and ferritin/iron overload markers) and prior hematopoietic stem cell transplant history must be documented for eligibility assessment.