hypophosphatasia

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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