hypophosphatasia
Information
- Disease name
- hypophosphatasia
- Disease ID
- DOID:14213
- Description
- "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12." [url:https\://ghr.nlm.nih.gov/condition/hypophosphatasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes | Mutation | Description | Source | Links |
---|
NCT ID | Status | Phase | Summary | Start date | Completion date |
---|---|---|---|---|---|
NCT04222452 | Active, not recruiting | The PORTRAIT Study | July 12, 2021 | February 28, 2023 | |
NCT04195763 | Active, not recruiting | Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa) | November 6, 2019 | May 3, 2024 | |
NCT04018287 | Active, not recruiting | Circulating miRNAs and Bone Microstructure in Adults With Hypophosphatasia | August 1, 2017 | June 1, 2023 | |
NCT02496689 | Approved for marketing | Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) | |||
NCT01163149 | Completed | Phase 2 | Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) | June 2010 | June 2016 |
NCT02235493 | Completed | Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09 | August 2014 | September 2014 | |
NCT01176266 | Completed | Phase 2/Phase 3 | Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) | July 2010 | September 2016 |
NCT02291497 | Completed | Burden of Disease in Hypophosphatasia (HPP) | October 2014 | June 2016 | |
NCT02456038 | Completed | Phase 2 | Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP) | August 2014 | July 2015 |
NCT02531867 | Completed | Phase 4 | Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan | June 2015 | November 2015 |
NCT02751801 | Completed | Health Burden of Hypophosphatasia | November 2016 | December 2017 | |
NCT02796885 | Completed | Characterisation of Adult-Onset Hypophosphatasia | November 2016 | December 31, 2019 | |
NCT02797821 | Completed | Phase 2 | Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) | June 6, 2016 | June 21, 2017 |
NCT03418389 | Completed | Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia | September 5, 2018 | May 31, 2021 | |
NCT04925804 | Completed | Unraveling Genetics of HypoPhosPhatasia (HPP Genetics) | June 2, 2021 | December 2, 2021 | |
NCT01205152 | Completed | Phase 2 | Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP) | April 2009 | August 2016 |
NCT01406977 | Completed | Phase 2 | Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) | July 2011 | September 2012 |
NCT05890794 | Completed | Phase 1/Phase 2 | Pilot Trial of Single Dose Ilofotase Alfa in Hypophosphatasia | May 15, 2023 | July 12, 2023 |
NCT04980248 | Completed | Phase 1 | Study of ALXN1850 in Participants With Hypophosphatasia (HPP) | August 16, 2021 | August 24, 2022 |
NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
NCT05596539 | Not yet recruiting | Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO) | November 2022 | November 2029 | |
NCT06015750 | Not yet recruiting | Phase 4 | Mitigate Immune-Mediated Loss of Therapeutic Response to Asfotase Alfa (STRENSIQ®) for Hypophosphatasia | April 30, 2024 | April 28, 2028 |
NCT06161142 | Recruiting | Characteristics of Hypophosphatasia in Adult Patients in Rheumatology | February 28, 2023 | December 1, 2024 | |
NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
NCT02237625 | Recruiting | Natural History Study of Patients With Hypophosphatasia (HPP) | September 2014 | September 2028 | |
NCT05062629 | Recruiting | United States Hypophosphatasia Molecular Research Center | August 24, 2021 | August 1, 2024 | |
NCT05234567 | Recruiting | A Prospective Sub-Study of the Global Hypophosphatasia Registry | March 17, 2022 | June 30, 2028 | |
NCT06079359 | Recruiting | Phase 3 | Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP | May 14, 2024 | August 20, 2027 |
NCT06079372 | Recruiting | Phase 3 | Phase 3 Study of ALXN1850 in Pediatric Participants With HPP Previously Treated With Asfotase Alfa | April 2, 2024 | October 15, 2027 |
NCT06079281 | Recruiting | Phase 3 | Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa | January 3, 2024 | August 31, 2027 |
NCT04189315 | Withdrawn | Phase 4 | Relieving Burden of Hypophosphatasia in Adults With Functional Impairment Due to Chronic Disease | April 2020 | August 2022 |
NCT00894075 | Withdrawn | Phase 2 | Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) | July 2009 | December 2014 |
- Exact Synonym (Disease Ontology)
- deficiency of alkaline phosphatase
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6734
- Cross Reference ID (Disease Ontology)
- ICD10CM:E83.39
- Cross Reference ID (Disease Ontology)
- MESH:C562440
- Cross Reference ID (Disease Ontology)
- MESH:D007014
- Cross Reference ID (Disease Ontology)
- NCI:C26798
- Cross Reference ID (Disease Ontology)
- ORDO:436
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:30174008
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:70848009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0020630
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220743
- OrphaNumber from OrphaNet (Orphanet)
- 436
- MeSH unique ID (MeSH (Medical Subject Headings))
- D007014