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Clinical Trial Summary

This Clinical Trial is being conducted to study Hypophosphatasia (HPP), a bone disorder caused by gene mutations or changes. These gene mutations cause low levels of an enzyme needed to harden bone. The purpose of this study is to test the safety of the study drug called ENB-0040 and see what effects is has on human juveniles and HPP.


Clinical Trial Description

Hypophosphatasia (HPP) is a rare inherited form of rickets and osteomalacia caused by inactivating mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). The prevalence of the disease is thought to be about 1:100,000 although it is markedly higher in a small Canadian Mennonite population (Fraser 1957, Chodirker 1990). Inheritance can be autosomal recessive or dominant, and penetrance is variable resulting in a wide range of clinical expressivity. HPP differs from other forms of rickets and osteomalacia in that serum levels of calcium and phosphorus are generally normal or even elevated (Whyte 2002). Low circulating levels of alkaline phosphatase with elevated serum or urine levels of the TNSALP substrates inorganic pyrophosphate (PPi), pyridoxal 5'-phosphate (PLP) and phosphoethanolamine (PEA) are the biochemical hallmarks of this inborn error of metabolism. Disease severity in HPP is inversely related to the age at symptom presentation. The most severe cases occur in utero and almost invariably result in death, generally due to pulmonary compromise. Infants who present in the first six months of life have about 50% mortality. Children and adults have less severe disease but can have frequent fractures, bone pain, bowing of the long bones and muscle weakness, and morbidity is generally cumulative. Some patients cannot ambulate independently and end up wheelchair-bound. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00894075
Study type Interventional
Source Alexion
Contact
Status Withdrawn
Phase Phase 2
Start date July 2009
Completion date December 2014

See also
  Status Clinical Trial Phase
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Recruiting NCT02237625 - Natural History Study of Patients With Hypophosphatasia (HPP)
Completed NCT02291497 - Burden of Disease in Hypophosphatasia (HPP) N/A
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Active, not recruiting NCT04195763 - Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa)
Not yet recruiting NCT05596539 - Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
Completed NCT02751801 - Health Burden of Hypophosphatasia
Completed NCT02796885 - Characterisation of Adult-Onset Hypophosphatasia
Completed NCT05890794 - Pilot Trial of Single Dose Ilofotase Alfa in Hypophosphatasia Phase 1/Phase 2
Recruiting NCT06079359 - Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP Phase 3
Recruiting NCT05234567 - A Prospective Sub-Study of the Global Hypophosphatasia Registry
Completed NCT02797821 - Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Phase 2
Completed NCT01163149 - Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Phase 2
Completed NCT04925804 - Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)
Completed NCT02531867 - Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Phase 4
Completed NCT01406977 - Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Phase 2
Recruiting NCT01793168 - Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Completed NCT01176266 - Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Phase 2/Phase 3
Active, not recruiting NCT04222452 - The PORTRAIT Study
Recruiting NCT06079281 - Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa Phase 3