Osteomalacia
disease diseaseOn this page
Also known as osteomalacia (disease)
Summary
Osteomalacia (MONDO:0001068) is a disease and 13 clinical trials. Top therapeutic interventions include cholecalciferol and edotreotide gallium ga-68. A subtype of bone remodeling disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 13
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | osteomalacia |
| Mondo ID | MONDO:0001068 |
| MeSH | D010018 |
| DOID | DOID:10573 |
| NCIT | C26838 |
| SNOMED CT | 4598005 |
| UMLS | C0029442 |
| MedGen | 14533 |
| Is cancer (heuristic) | no |
Also known as: osteomalacia · osteomalacia (disease)
Data availability: 1 HPO phenotype · 6 cell lines.
Disease family
This is a subtype of bone remodeling disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone remodeling disease › osteomalacia
Related subtypes (5): bone resorption disease, fibrous dysplasia, hyperostosis, osteosclerosis, rickets
Subtypes (1): Oncogenic osteomalacia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated or in trials for this disease
1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Status |
|---|---|
| Burosumab | Approved (phase 4) |
1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| Infigratinib | Phase 2 |
Clinical trials & evidence
Clinical trials
Clinical trials: 13.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 10 |
| PHASE4 | 1 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01025128 | PHASE4 | COMPLETED | Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density |
| NCT03736564 | PHASE1/PHASE2 | COMPLETED | Ga-DOTATATE PET for Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia |
| NCT01748812 | PHASE1 | TERMINATED | Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) |
| NCT00024804 | Not specified | RECRUITING | A Natural History Study of Bone and Mineral Disorders |
| NCT00001242 | Not specified | COMPLETED | Studies of States With Resistance to Vitamin D and Parathyroid Hormone |
| NCT00099762 | Not specified | COMPLETED | Catheterization to Locate Mesenchymal Tumors in Patients With Tumor-Induced Osteomalacia or Oncogenic Osteomalacia |
| NCT01102751 | Not specified | COMPLETED | Serum FGF-23 and Vitamin D Deficiency |
| NCT02084693 | Not specified | COMPLETED | COMPREHENSIVE® REVERSE SHOULDER Mini BasePlate |
| NCT02252679 | Not specified | COMPLETED | Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders |
| NCT02548520 | Not specified | COMPLETED | Maternal and Infant Vitamin Status During the First Nine Months of Infant Life |
| NCT04045834 | Not specified | UNKNOWN | Study of the Diagnostic Value of Hybrid PET/MR and PET/CT in Neuroendocrine Diseases and Tumor Induced Osteomalacia |
| NCT04841213 | Not specified | COMPLETED | Dental Implants Rehabilitation in Patients With Vitamin D3 Imbalance |
| NCT05716750 | Not specified | UNKNOWN | Serum Prolidase Activity and the Role of Leptin in Osteomalacia |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CHOLECALCIFEROL | 4 | 1 |
| EDOTREOTIDE GALLIUM GA-68 | 4 | 1 |