Disease · MONDO_0000984

thalassemia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. thalassemia. Diseases, record MONDO_0000984. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0000984

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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: thalassemia; Open Targets
Open Targets ID: MONDO_0000984; Open Targets
Other names: sickle-cell thalassemia with crisis, sickle-cell thalassemia without crisis, α- and β-thalassemia; Open Targets
Disease Ontology: DOID:10241; Disease Ontology
MeSH: D013789; MeSH
NCI Thesaurus: C35069; NCI Thesaurus
Highest stage of its drugs: Approval, for 3 of its 38 drugs, from DailyMed, FDA and TTD; Open Targets

Drugs38

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
DEFERIPRONE	CHEMBL70927	Small molecule	Approval	DailyMed and TTD	6	4	4	Drugs and targets
EXAGAMGLOGENE AUTOTEMCEL	CHEMBL5095474	Gene	Approval	FDA	1	0	0	Drugs and targets
LUSPATERCEPT	CHEMBL3039545	Protein	Approval	DailyMed	1	0	0	Drugs and targets
DEFERASIROX	CHEMBL550348	Small molecule	Phase 3	ClinicalTrials.gov	6	6	6	Drugs and targets
DEFEROXAMINE	CHEMBL556	Small molecule	Phase 3	ClinicalTrials.gov	4	4	4	Drugs and targets
MITAPIVAT	CHEMBL4299940	Small molecule	Phase 3	ClinicalTrials.gov	2	2	2	Drugs and targets
SILDENAFIL	CHEMBL192	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
AMLODIPINE	CHEMBL1491	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2	ClinicalTrials.gov	7	7	7	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 2	ClinicalTrials.gov	6	6	6	Drugs and targets

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Targets74

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
DNMT1	DNA (cytosine-5)-methyltransferase 1	2	DNA (cytosine-5)-methyltransferase 1 inhibitor	Phase 2	https://conductscience.org/library/genes/1786	Drugs and targets
DNMT3A	DNA (cytosine-5)-methyltransferase 3A	2	DNA (cytosine-5)-methyltransferase 3A inhibitor	Phase 2	https://conductscience.org/library/genes/1788	Drugs and targets
IMPDH1	Inosine-5'-monophosphate dehydrogenase (IMPDH)	2	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor; Inosine-5'-monophosphate dehydrogenase 1 inhibitor	Phase 2	https://conductscience.org/library/genes/3614	Drugs and targets
MPL	Thrombopoietin receptor	2	Thrombopoietin receptor agonist	Unknown	https://conductscience.org/library/genes/4352	Drugs and targets
PKLR	Pyruvate kinase PKLR	2	Pyruvate kinase isozymes R/L activator	Phase 3	https://conductscience.org/library/genes/5313	Drugs and targets
ADRM1	26S proteasome	1	26S proteasome inhibitor	Phase 2	https://conductscience.org/library/genes/11047	Drugs and targets
BCL11A	BCL11 transcription factor A	1	B-cell lymphoma/leukemia 11A gene editing negative modulator	Approval	https://conductscience.org/library/genes/53335	Drugs and targets
CACNA1C	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/775	Drugs and targets
CACNA1D	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/776	Drugs and targets
CACNA1F	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/778	Drugs and targets

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Trials33

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. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02993224	Open-label, Multicenter Study Assessing Preference for Deferasirox Film-coated Tablet Compared to Dispersible Tablet	Phase 2	148	2021-10-04	Transfusion-dependent Thalassemia, Non-transfusion-dependent Thalassemia	DEFERASIROX	Its record names the disease	ClinicalTrials.gov
NCT02720536	Extended Evaluation of Deferasirox Film-coated Tablet (FCT) Formulation	Phase 3	53	2020-03-03	Chronic Iron Overload	DEFERASIROX	Its record names the disease	ClinicalTrials.gov
NCT02049450	Study of Efficacy and Safety of INC424 in Regularly Transfused Patients With Thalassemia.	Phase 2	30	2017-06-15	Thalassemia Major	RUXOLITINIB	Its record names the disease	ClinicalTrials.gov
NCT00872170	Sildenafil to Improve Exercise Capacity in People With Thalassemia and Pulmonary Hypertension	Phase 2/3	27	2014-02-21	Thalassemia, Hypertension, Pulmonary	SILDENAFIL	Its record names the disease	ClinicalTrials.gov
NCT01850108	Non-Myeloablative Conditioning and Bone Marrow Transplantation	Not applicable	26	2024-01-10	Sickle Cell Disease, Hemoglobinopathies	CYCLOPHOSPHAMIDE, FLUDARABINE, MESNA, MYCOPHENOLATE MOFETIL, SIROLIMUS	Its record names the disease	ClinicalTrials.gov
NCT00901199	Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload	Phase 2	22	2021-08-12	Thalassemia, Iron Overload	DEFERASIROX, DEFEROXAMINE	Its record names the disease	ClinicalTrials.gov
NCT01005576	Reduced Intensity Transplant Conditioning Regimen for Severe Thalassemia	Phase 2	21	2017-10-20	Severe Thalassemia	ALEMTUZUMAB, FLUDARABINE, HYDROXYUREA, MELPHALAN, THIOTEPA	Its record names the disease	ClinicalTrials.gov
NCT00115349	Combination Therapy Compared With Single-Drug Therapy in Patients With Cardiac Diseases	Phase 2	20	2014-01-14	Cardiovascular Diseases, Heart Diseases, Beta-Thalassemia	DEFERIPRONE, DEFEROXAMINE	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
NCT01048905	Glutamine Therapy for Hemolysis-Associated Pulmonary Hypertension	Phase 2	13	2021-06-10	Pulmonary Hypertension, Sickle Cell Disease, Thalassemia	GLUTAMINE	Its record names the disease	ClinicalTrials.gov

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Comparisons in its trials1

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.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial
Deferoxamine (DFO) and Deferiprone (L1) Combination Therapy vs Deferoxamine (DFO) + Monotherapy: serious adverse events	6 of 11	3 of 9	20	NCT00115349

Source Trial comparisons

Papers from its trials24

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
36058507	RESULT	1	PubMed
35745672	RESULT	1	PubMed
34795208	RESULT	1	PubMed
32750127	RESULT	1	PubMed
29455932	RESULT	1	PubMed
25459642	RESULT	1	PubMed
24939325	RESULT	1	PubMed
23585527	RESULT	1	PubMed
23151373	RESULT	1	PubMed
22180427	RESULT	1	PubMed

1 to 10 of 24

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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_0000984

GET https://conductscience.org/api/diseases/v1/MONDO_0000984/drugs?page=2

API reference For AI assistants