Hypophosphatasia Clinical Trial
Official title:
Single-Center, Case-Control Study of Safety, Efficacy and Pharmacokinetics of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) for Treatment of Hypophosphatasia in Children
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.
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. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT03418389 -
Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia
|
||
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 |