Disease · MONDO_0015253

Diamond-Blackfan anemia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Diamond-Blackfan anemia. Diseases, record MONDO_0015253. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0015253

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Diamond-Blackfan anemia; Open Targets
Open Targets ID: MONDO_0015253; Open Targets
Other names: Aase syndrome, Aase-Smith II syndrome, Blackfan-Diamond anaemia, Blackfan-Diamond anemia, DBA, chronic constitutional pure red cell anemia, congenital PRCA, congenital hypoplastic anaemia, congenital hypoplastic anemia, congenital hypoplastic anemia, Blackfan-Diamond type, congenital pure red cell aplasia, erythrogenesis imperfecta, inherited erythroblastopenia; Open Targets
Disease Ontology: DOID:1339; Disease Ontology
MeSH: D029503; MeSH
NCI Thesaurus: C61236; NCI Thesaurus
Orphanet: ORPHA:124; Orphanet
Highest stage of its drugs: Phase 2, for 9 of its 23 drugs, from ClinicalTrials.gov; Open Targets

Drugs23

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
FLUDARABINE	CHEMBL1568	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Phase 2	ClinicalTrials.gov	2	2	0	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
CYCLOSPORINE	CHEMBL160	Protein	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
LEUCINE	CHEMBL291962	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
RITUXIMAB	CHEMBL1201576	Antibody	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
DACLIZUMAB	CHEMBL1201605	Antibody	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
LUSPATERCEPT	CHEMBL3039545	Protein	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
HYDROXYUREA	CHEMBL467	Small molecule	Phase 1/2	ClinicalTrials.gov	2	2	2	Drugs and targets

1 to 10 of 23

See all 23 drugs

Targets29

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
NR3C1	Glucocorticoid receptor	2	Glucocorticoid receptor agonist	Phase 1/2	https://conductscience.org/library/genes/2908	Drugs and targets
CD2	T-cell surface antigen CD2	1	T-cell surface antigen CD2 inhibitor	Unknown	https://conductscience.org/library/genes/914	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2	https://conductscience.org/library/genes/1043	Drugs and targets
CRBN	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 1	https://conductscience.org/library/genes/51185	Drugs and targets
CSF3R	Granulocyte colony-stimulating factor receptor	1	Granulocyte colony stimulating factor receptor agonist	Unknown	https://conductscience.org/library/genes/1441	Drugs and targets
CUL4A	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 1	https://conductscience.org/library/genes/8451	Drugs and targets
DDB1	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 1	https://conductscience.org/library/genes/1642	Drugs and targets
DRD2	D2-like dopamine receptor	1	D2-like dopamine receptor antagonist	Phase 1/2	https://conductscience.org/library/genes/1813	Drugs and targets
DRD3	D2-like dopamine receptor	1	D2-like dopamine receptor antagonist	Phase 1/2	https://conductscience.org/library/genes/1814	Drugs and targets
DRD4	D2-like dopamine receptor	1	D2-like dopamine receptor antagonist	Phase 1/2	https://conductscience.org/library/genes/1815	Drugs and targets

1 to 10 of 29

See all 29 targets

Trials16

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00001962	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure	Phase 2	100	2015-05-14	Aplastic Anemia, Pure Red Cell Aplasia, Diamond Blackfan Anemia	DACLIZUMAB	Its record names the disease	ClinicalTrials.gov
NCT01362595	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia	Phase 1/2	55	2022-12-02	Diamond Blackfan Anemia, Blackfan Diamond Syndrome, DBA, Congenital Hypoplastic Anemia, Pure Red Cell Aplasia	LEUCINE	Its record names the disease	ClinicalTrials.gov
NCT00744692	Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders	Phase 1	22	2014-08-13	Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies, Inborn Errors of Metabolism, Sickle Cell, Thalassemia, Lysosomal Storage Disease	ALEMTUZUMAB, FLUDARABINE, HYDROXYUREA, MELPHALAN, THIOTEPA	Its record names the disease	ClinicalTrials.gov
NCT02512679	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells	Phase 2	20	2016-06-17	Stem Cell Transplantation, Bone Marrow Transplantation, Peripheral Blood Stem Cell Transplantation, Allogeneic Transplantation, Genetic Diseases, Thalassemia, Pediatrics, Diamond-Blackfan Anemia, Combined Immune Deficiency, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, X-linked Lymphoproliferative Disease, Metabolic Diseases	ALEMTUZUMAB, CYCLOPHOSPHAMIDE, FLUDARABINE	Its record names the disease	ClinicalTrials.gov
NCT01464164	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia	Phase 1/2	19	2021-12-21	Diamond Blackfan Anemia	PREDNISONE, SOTATERCEPT	Its record names the disease	ClinicalTrials.gov
NCT04269889	Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag	Phase 1/2	15	2023-09-13	Anemia, Diamond-Blackfan	ELTROMBOPAG	Its record names the disease	ClinicalTrials.gov
NCT00229619	Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia	Phase 2	11	2014-07-28	Anemia, Aplastic, Red-Cell Aplasia, Pure, Anemia, Diamond-Blackfan	RITUXIMAB	Its record names the disease	ClinicalTrials.gov
NCT01319851	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation	Not applicable	3	2015-03-09	Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia	ALEFACEPT	Its record names the disease	ClinicalTrials.gov
NCT01034592	Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia	Phase 1	2	2017-02-07	Anemia, Leukemia, Acute Myeloid Leukemia (AML), Myelodysplastic Syndromes (MDS)	LENALIDOMIDE	Its record names the disease	ClinicalTrials.gov
NCT03966053	The Use of Trifluoperazine in Transfusion Dependent DBA	Phase 1/2	2	2022-12-14	Diamond Blackfan Anemia, Pure Red Cell Aplasia	TRIFLUOPERAZINE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 16

See all 16 trials

Comparisons in its trials0

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

None in this release.

Papers from its trials5

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
25459642	RESULT	1	PubMed
42583025	DERIVED	1	PubMed
33025707	DERIVED	1	PubMed
26095669	DERIVED	1	PubMed
24296492	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0015253

GET https://conductscience.org/api/diseases/v1/MONDO_0015253/drugs?page=2

API reference For AI assistants