Disease · EFO_0022976
inherited bone marrow failure syndrome
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. inherited bone marrow failure syndrome. Diseases, record EFO_0022976. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/EFO_0022976
On this page
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
- inherited bone marrow failure syndrome
- Open Targets ID
- EFO_0022976
- Other names
- IBMFS
- Highest stage of its drugs
- Phase 2, for 6 of its 8 drugs, from ClinicalTrials.gov
Source Open Targets
Drugs8
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 |
|---|---|---|---|---|---|---|---|---|
| FLUDARABINE | CHEMBL1568 | Small molecule | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| ALEMTUZUMAB | CHEMBL1201587 | Antibody | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| CYCLOPHOSPHAMIDE | CHEMBL1200796 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| MELPHALAN | CHEMBL852 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| MYCOPHENOLATE MOFETIL | CHEMBL1456 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| TACROLIMUS | CHEMBL3989887 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| BUSULFAN | CHEMBL820 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| THIOTEPA | CHEMBL671 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets4
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 |
|---|---|---|---|---|---|---|
| CD52 | CAMPATH-1 antigen | 1 | CAMPATH-1 antigen inhibitor | Phase 2 | https://conductscience.org/library/genes/1043 | Drugs and targets |
| FKBP1A | Peptidyl-prolyl cis-trans isomerase FKBP1A | 1 | FK506-binding protein 1A inhibitor | Phase 2 | https://conductscience.org/library/genes/2280 | Drugs and targets |
| IMPDH1 | Inosine-5'-monophosphate dehydrogenase (IMPDH) | 1 | Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor | Phase 2 | https://conductscience.org/library/genes/3614 | Drugs and targets |
| IMPDH2 | Inosine-5'-monophosphate dehydrogenase (IMPDH) | 1 | Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor | Phase 2 | https://conductscience.org/library/genes/3615 | Drugs and targets |
Trials2
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 |
|---|---|---|---|---|---|---|---|---|
| NCT03513328 | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation | Phase 1/2 | 6 | 2023-09-15 | Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia, Acquired Neutropenia in Newborn, Acquired Anemia Hemolytic, Acquired Thrombocytopenia, Hemophagocytic Lymphohistiocytoses, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Common Variable Immunodeficiency, X-linked Lymphoproliferative Disease, Severe Combined Immunodeficiency, Hurler Syndrome, Mannosidosis, Adrenoleukodystrophy | BUSULFAN, FLUDARABINE, THIOTEPA | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT04232085 | Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures | Phase 2 | 27 | Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length, Fanconi Anemia, Non Fanconi DNA-DSB Repair Disorder, Hoyeraal-Hreidarsson Syndrome, Dyskeratosis Congenita, Telomere Biology Disorder, Short Telomere Syndrome | ALEMTUZUMAB, CYCLOPHOSPHAMIDE, FLUDARABINE, MELPHALAN, MYCOPHENOLATE MOFETIL, TACROLIMUS | Its record names the disease | ClinicalTrials.gov |
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 trials1
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 |
|---|---|---|
| 33159275 | DERIVED | 1 |
Source PubMed
Data dates
The date of each source this release read.
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/EFO_0022976
GET https://conductscience.org/api/diseases/v1/EFO_0022976/drugs