RecruitingNCT00027274
Blood
Diamond-Blackfan Anemia
Also known as DBA, congenital hypoplastic anemia, Blackfan-Diamond syndrome
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 biogen
ORPHA:124 ↗Gene RPS19Gene RPL5Gene RPS26 (multiple)Prevalence 5-7 per million live birthsOnset Infancy; typically presents within the first year of lifeAutosomal dominant (most cases); some autosomal recessive
11
studies recruiting now
as of 7 Sept 2026
60
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
17 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1 / Phase 2NCT03653338
T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
RecruitingPhase 1NCT07476183
Assessing the Safety, Tolerability, and Efficacy of APR-2020 in Pediatric and Adolescent Subjects With RPS19 Deficient Diamond-Blackfan Anemia
RecruitingNCT03050268
Familial Investigations of Childhood Cancer Predisposition
RecruitingNCT02720679
Investigation of the Genetics of Hematologic Diseases
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 11 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: DBA Registry of North America · Join ↗. Registries connect patients to researchers and often hear about trials first.
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 lifeReticulocytopenia with absent erythroid precursors on bone marrow biopsyPallor, fatigue, and poor feeding in infancyCraniofacial anomalies (cleft palate, hypertelorism)Upper limb abnormalities including triphalangeal thumbsShort stature and growth retardationElevated erythrocyte adenosine deaminase (eADA) activityIncreased cancer predisposition including MDS and osteosarcoma
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Diamond-Blackfan Anemia. Not eligibility rules; those are set by each study.
- 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.
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).