Disease · MONDO_0017198
osteopetrosis
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. osteopetrosis. Diseases, record MONDO_0017198. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0017198
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.
- Other names
- Albers-Schonberg disease, Harder, denser, fracture-prone bones, marble bone disease, marble bones, osteopetrosis (disease)
- Open Targets
Drugs9
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 |
|---|---|---|---|---|---|---|---|---|
| INTERFERON GAMMA-1B | CHEMBL1201564 | Protein | Approval | DailyMed | 4 | 3 | 3 | Drugs and targets |
| BAZEDOXIFENE | CHEMBL46740 | Small molecule | Approval | TTD | 1 | 0 | 0 | Drugs and targets |
| CALCITRIOL | CHEMBL846 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| BUSULFAN | CHEMBL820 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 4 | 4 | 4 | Drugs and targets |
| FLUDARABINE | CHEMBL1568 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| ALEMTUZUMAB | CHEMBL1201587 | Antibody | Phase 2/3 | ClinicalTrials.gov | 2 | 2 | 1 | Drugs and targets |
| CYCLOPHOSPHAMIDE | CHEMBL1200796 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| CLOFARABINE | CHEMBL1750 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| APOMINE | CHEMBL4639024 | Small molecule | Phase 2 | TTD | 1 | 0 | 0 | Drugs and targets |
Targets20
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 2/3 | https://conductscience.org/library/genes/1043 | Drugs and targets |
| ESR1 | Estrogen receptor | 1 | Estrogen receptor modulator | Approval | https://conductscience.org/library/genes/2099 | Drugs and targets |
| ESR2 | Estrogen receptor | 1 | Estrogen receptor modulator | Approval | https://conductscience.org/library/genes/2100 | Drugs and targets |
| IFNGR1 | Interferon gamma receptor | 1 | Interferon gamma receptor agonist | Approval | https://conductscience.org/library/genes/3459 | Drugs and targets |
| IFNGR2 | Interferon gamma receptor | 1 | Interferon gamma receptor agonist | Approval | https://conductscience.org/library/genes/3460 | Drugs and targets |
| POLA1 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Phase 2 | https://conductscience.org/library/genes/5422 | Drugs and targets |
| POLA2 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Phase 2 | https://conductscience.org/library/genes/23649 | Drugs and targets |
| POLD1 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Phase 2 | https://conductscience.org/library/genes/5424 | Drugs and targets |
| POLD2 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Phase 2 | https://conductscience.org/library/genes/5425 | Drugs and targets |
| POLD3 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Phase 2 | https://conductscience.org/library/genes/10714 | Drugs and targets |
1 to 10 of 20
See all 20 targetsTrials7
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 |
|---|---|---|---|---|---|---|---|---|
| NCT00775931 | Allogeneic Transplantation For Severe Osteopetrosis | Phase 2/3 | 7 | 2019-07-31 | Severe Osteopetrosis | ALEMTUZUMAB, BUSULFAN, CYCLOPHOSPHAMIDE, FLUDARABINE | Its record names the disease | ClinicalTrials.gov |
| NCT02666768 | ACTIMMUNE in Intermediate Osteopetrosis | Phase 2 | 5 | 2023-10-11 | Osteopetrosis | INTERFERON GAMMA-1B | Its record names the disease | ClinicalTrials.gov |
| NCT00638820 | Reduced Intensity AlloTransplant For Osteopetrosis | Phase 2 | 3 | 2010-02-03 | Osteopetrosis | BUSULFAN, CLOFARABINE | Its record names the disease | ClinicalTrials.gov |
| NCT02171104 | MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis | Phase 2 | 149 | Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders | BUSULFAN, FLUDARABINE | Its record names the disease | ClinicalTrials.gov | |
| NCT00004402 | Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis | Phase 3 | 30 | Osteopetrosis | CALCITRIOL, INTERFERON GAMMA-1B | Its record names the disease | ClinicalTrials.gov | |
| NCT01087398 | Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis | Phase 2/3 | 10 | Osteopetrosis | BUSULFAN, CYCLOPHOSPHAMIDE, FLUDARABINE | Its record names the disease | ClinicalTrials.gov | |
| NCT00043329 | Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis | 6 | Osteopetrosis | INTERFERON GAMMA-1B | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials5
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 | Source |
|---|---|---|---|---|---|
| Marrow Graft Transplant Conditioning vs Cord Blood Transplant Conditioning: Number of Patients Who Achieved Donor Cell Engraftment | 5 of 6 | 0 of 1 | 7 | NCT00775931 | Trial comparisons |
| Marrow Graft Transplant Conditioning vs Cord Blood Transplant Conditioning: Incidence of Grade II - IV Acute Graft-versus-host Disease | 2 of 6 | 0 of 1 | 7 | NCT00775931 | Trial comparisons |
| Marrow Graft Transplant Conditioning vs Cord Blood Transplant Conditioning: Transplant Related Mortality at 100 Days | 0 of 6 | 0 of 1 | 7 | NCT00775931 | Trial comparisons |
| Marrow Graft Transplant Conditioning vs Cord Blood Transplant Conditioning: Transplant Related Toxicity | 3 of 6 | 1 of 1 | 7 | NCT00775931 | Trial comparisons |
| Marrow Graft Transplant Conditioning vs Cord Blood Transplant Conditioning: serious adverse events | 3 of 6 | 0 of 1 | 7 | NCT00775931 | Trial comparisons |
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 |
|---|---|---|
| 34056870 | 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/MONDO_0017198
GET https://conductscience.org/api/diseases/v1/MONDO_0017198/drugs