osteogenesis imperfecta
Information
- Disease name
- osteogenesis imperfecta
- Disease ID
- DOID:12347
- Description
- "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." [url:http\://en.wikipedia.org/wiki/Osteogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00051, url:http\://osteogenesisimperfecta.org/, url:http\://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001573.htm]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06397443 | Active, not recruiting | N/A | Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy | April 24, 2024 | September 13, 2024 |
| NCT02531087 | Active, not recruiting | Urinary Biomarkers of OI Pathobiology | September 2015 | December 2025 | |
| NCT02814591 | Active, not recruiting | Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy | October 2011 | June 2025 | |
| NCT02934451 | Active, not recruiting | Dental Malocclusion and Craniofacial Development in OI | August 2016 | December 2026 | |
| NCT03706482 | Active, not recruiting | Phase 1/Phase 2 | Boost Brittle Bones Before Birth | August 12, 2019 | April 2030 |
| NCT05125809 | Active, not recruiting | Phase 2/Phase 3 | Study to Assess Dose, Efficacy and Safety of Setrusumab in Participants With Osteogenesis Imperfecta | February 21, 2022 | March 2026 |
| NCT05768854 | Active, not recruiting | Phase 3 | Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta | June 14, 2023 | June 2026 |
| NCT04282408 | Completed | N/A | Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology | July 9, 2019 | May 31, 2021 |
| NCT00001594 | Completed | Evaluation and Intervention for the Effects of Osteogenesis Imperfecta | January 29, 1997 | ||
| NCT00131469 | Completed | Phase 4 | Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta | June 2005 | January 2011 |
| NCT01799798 | Completed | Phase 2 | Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab | February 2013 | January 2015 |
| NCT04844697 | Completed | Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study | May 12, 2021 | December 31, 2022 | |
| NCT02172885 | Completed | Phase 1 | Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta | April 2014 | December 2018 |
| NCT02303873 | Completed | Phase 4 | Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta | March 2007 | August 2014 |
| NCT01713231 | Completed | Phase 4 | Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta | September 2012 | July 2014 |
| NCT04231916 | Completed | N/A | High Resolution Thermal Imaging to Identify Vertebral Fractures in Children and Young People With Osteogenesis Imperfecta | October 23, 2015 | July 7, 2016 |
| NCT04545554 | Completed | Phase 1 | Study to Evaluate Romosozumab in Children and Adolescents With Osteogenesis Imperfecta | January 21, 2021 | March 30, 2023 |
| NCT00001305 | Completed | Phase 3 | Growth Hormone Therapy in Osteogenesis Imperfecta | November 5, 1991 | May 19, 2017 |
| NCT00106028 | Completed | Phase 3 | Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children | November 2004 | March 2010 |
| NCT05321199 | Completed | N/A | Tranexamic Acid During Telescoping Nail Application In Osteogenesis Imperfecta | May 1, 2022 | November 30, 2023 |
| NCT00159419 | Completed | Phase 4 | Bisphosphonate Therapy for Osteogenesis Imperfecta | August 1999 | August 2008 |
| NCT00187018 | Completed | N/A | Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study | March 2004 | August 2007 |
| NCT00076830 | Completed | Evaluation and Treatment of Patients With Connective Tissue Disease | May 18, 2004 | ||
| NCT02793063 | Completed | Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 | June 2016 | August 10, 2016 | |
| NCT00655681 | Completed | N/A | Prevention of Post Operative Bone Loss in Children | September 2007 | August 2011 |
| NCT00705120 | Completed | Phase 1 | Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation | November 1995 | October 2007 |
| NCT03029312 | Completed | N/A | Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility | January 17, 2012 | January 18, 2016 |
| NCT03064074 | Completed | Phase 1 | Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta | November 15, 2017 | July 4, 2022 |
| NCT03072303 | Completed | Pregnancy in Osteogenesis Imperfecta (OI) Registry | June 16, 2017 | September 13, 2019 | |
| NCT03208582 | Completed | Phase 2 | Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? | April 1, 2017 | November 2, 2017 |
| NCT00063479 | Completed | Phase 2 | Bisphosphonate Treatment of Osteogenesis Imperfecta | June 2003 | May 2007 |
| NCT03557567 | Completed | NGS Strategy Effectiveness in Molecular Diagnosis | September 29, 2014 | September 2017 | |
| NCT03575221 | Completed | Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation | July 30, 2018 | January 30, 2024 | |
| NCT00982124 | Completed | Phase 3 | An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta | October 2007 | April 2016 |
| NCT00005901 | Completed | Phase 3 | Pamidronate to Treat Osteogenesis Imperfecta in Children | June 2000 | March 2015 |
| NCT03841188 | Completed | N/A | Nutritional Interventional in Pediatric Patients With Osteogenesis Imperfecta | February 8, 2012 | February 10, 2014 |
| NCT04009733 | Completed | N/A | Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study | October 3, 2019 | April 24, 2022 |
| NCT01417091 | Completed | Phase 2 | Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta | June 2011 | December 2012 |
| NCT04119388 | Completed | N/A | Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta | November 4, 2019 | October 14, 2022 |
| NCT00131118 | Completed | Phase 2 | Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta | July 2004 | May 2007 |
| NCT05258019 | Not yet recruiting | Site Preservation After Tooth Extraction | November 1, 2023 | October 31, 2027 | |
| NCT05559801 | Not yet recruiting | Phase 1/Phase 2 | Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI) | September 2024 | October 2026 |
| NCT05612139 | Not yet recruiting | Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients | June 30, 2024 | July 30, 2025 | |
| NCT05878548 | Recruiting | N/A | Management of Combined Fracture Neck of Femur and Femoral Deformity in Osteogenesis Imperfecta Patient | August 1, 2023 | April 1, 2024 |
| NCT02432625 | Recruiting | BBD Longitudinal Study of Osteogenesis Imperfecta | June 2015 | December 2026 | |
| NCT05972551 | Recruiting | Phase 3 | Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta | April 22, 2024 | May 27, 2027 |
| NCT06010134 | Recruiting | N/A | Osteogenesis Imperfecta and Balance | May 1, 2023 | September 30, 2023 |
| NCT06065111 | Recruiting | Study of Osteogenesis Imperfecta Tendon | September 13, 2023 | June 1, 2025 | |
| NCT06086613 | Recruiting | Phase 1 | A First-in-Human Study Evaluating AGA2115 in Adult Healthy Volunteers | October 3, 2023 | October 7, 2024 |
| NCT04115774 | Recruiting | Registry of Osteogenesis Imperfecta | June 28, 2013 | February 29, 2032 | |
| NCT04152551 | Recruiting | Phase 4 | Effects of Bisphosphonates on OI-Related Hearing Loss | November 2, 2019 | November 2024 |
| NCT04169568 | Recruiting | Osteogenesis Imperfecta Blood Pressure Study | November 15, 2019 | December 31, 2024 | |
| NCT04815564 | Recruiting | N/A | Clear Aligners for the Treatment of Dental Malocclusion in OI | August 1, 2022 | July 2026 |
| NCT06193642 | Recruiting | N/A | Increasing Knowledge on Osteogenesis Imperfecta by Collecting Epidemiological Data | January 20, 2023 | November 30, 2028 |
| NCT05231668 | Recruiting | Phase 1 | Single Ascending Dose Study of SAR439459 in Adults With Osteogenesis Imperfecta (OI) | August 25, 2022 | June 30, 2025 |
| NCT05317637 | Recruiting | Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708 | August 1, 2022 | September 1, 2026 | |
| NCT05419960 | Recruiting | Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta | December 22, 2022 | December 22, 2025 | |
| NCT05927389 | Recruiting | N/A | Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta | February 26, 2024 | July 15, 2026 |
| NCT05312697 | Terminated | Phase 2 | Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta | April 28, 2022 | July 7, 2022 |
| NCT02542540 | Terminated | N/A | Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI) | July 2013 | December 2015 |
| NCT02352753 | Terminated | Phase 3 | Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI | June 24, 2015 | March 26, 2022 |
| NCT01679080 | Terminated | Phase 2 | The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta | November 2012 | June 1, 2021 |
| NCT04694144 | Unknown status | Results of Telescoping Nail In OI; a Case Series | December 1, 2020 | March 2024 | |
| NCT04623606 | Unknown status | Phase 1/Phase 2 | Boost to Brittle Bones - Stem Cell Transplantation for Treatment of Brittle Bones | May 20, 2019 | December 2021 |
| NCT03735537 | Unknown status | Phase 4 | Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid | November 1, 2016 | April 1, 2023 |
| NCT03216486 | Withdrawn | Phase 2 | An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta | October 31, 2017 | November 1, 2018 |
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:1017
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q78.0
- Cross Reference ID (Disease Ontology)
- ICD9CM:756.51
- Cross Reference ID (Disease Ontology)
- MESH:D010013
- Cross Reference ID (Disease Ontology)
- MIM:PS166200
- Cross Reference ID (Disease Ontology)
- NCI:C26837
- Cross Reference ID (Disease Ontology)
- ORDO:666
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254109004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0029434
- Exact Synonym (Disease Ontology)
- brittle bone disease
- Exact Synonym (Disease Ontology)
- Lobstein's syndrome
- Exact Synonym (Disease Ontology)
- Osteopsathyrosis
- Exact Synonym (Disease Ontology)
- Vrolik's disease
- Disase Synonym (Disease Ontology)
- Fragilitas ossium
- OMIM Phenotype Series Number (OMIM)
- PS166200
- OrphaNumber from OrphaNet (Orphanet)
- 666
- ICD10 preferred id (Insert disease from ICD10)
- D0014070
- ICD10 class code (Insert disease from ICD10)
- Q78.0
- MeSH unique ID (MeSH (Medical Subject Headings))
- D010013