osteopetrosis
Information
- Disease name
- osteopetrosis
- Disease ID
- DOID:13533
- Description
- "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones." [url:http\://en.wikipedia.org/wiki/Osteopetrosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03301168 | Active, not recruiting | Phase 1/Phase 2 | Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant | April 2014 | May 2034 |
| NCT00043329 | Completed | Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis | January 2002 | September 2005 | |
| NCT00004402 | Completed | Phase 3 | Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis | November 1999 | June 2000 |
| NCT01199094 | Completed | Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 | January 2009 | June 2010 | |
| NCT02666768 | Completed | Phase 2 | ACTIMMUNE in Intermediate Osteopetrosis | February 22, 2016 | April 11, 2019 |
| NCT00730314 | Completed | Phase 1/Phase 2 | Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells | August 2008 | August 2015 |
| NCT01200017 | No longer available | Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant | |||
| NCT03333200 | Recruiting | Longitudinal Study of Neurodegenerative Disorders | January 11, 2012 | January 2035 | |
| NCT02065869 | Terminated | Phase 1/Phase 2 | Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant | April 2014 | September 7, 2021 |
| NCT00145886 | Terminated | Phase 1 | rhPTH Therapy for Low Turnover Bone Fragility | February 2003 | September 2011 |
| NCT00145587 | Terminated | N/A | Stem Cell Transplantation for Children Affected With Osteopetrosis | July 2004 | February 2009 |
| NCT00968864 | Terminated | Phase 2 | T-cell Depleted Alternative Donor Transplantation | August 2009 | November 2016 |
| NCT00638820 | Terminated | Phase 2 | Reduced Intensity AlloTransplant For Osteopetrosis | September 2007 | May 2008 |
| NCT01019876 | Unknown status | Phase 2/Phase 3 | Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases | June 2002 | May 2013 |
| NCT01087398 | Unknown status | Phase 2/Phase 3 | Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis | September 2009 | December 2012 |
- Disase is a (Disease Ontology)
- DOID:4254
- Cross Reference ID (Disease Ontology)
- GARD:4155
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q78.2
- Cross Reference ID (Disease Ontology)
- ICD9CM:756.52
- Cross Reference ID (Disease Ontology)
- MESH:D010022
- Cross Reference ID (Disease Ontology)
- MIM:PS259700
- Cross Reference ID (Disease Ontology)
- MIM:PS607634
- Cross Reference ID (Disease Ontology)
- NCI:C26840
- Cross Reference ID (Disease Ontology)
- ORDO:667
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205500005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0029454
- Exact Synonym (Disease Ontology)
- Albers-Schonberg disease
- Exact Synonym (Disease Ontology)
- marble bone
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0011002
- ICD10 preferred id (Insert disease from ICD10)
- D0014072
- ICD10 class code (Insert disease from ICD10)
- Q78.2
- MeSH unique ID (MeSH (Medical Subject Headings))
- D010022