Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP)
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|ClinicalTrials.gov Identifier: NCT00894075|
Recruitment Status : Withdrawn (Withdrawn pending further review of clinical design.)
First Posted : May 6, 2009
Last Update Posted : January 25, 2013
|Condition or disease||Intervention/treatment||Phase|
|Hypophosphatasia||Biological: ENB-0040||Phase 2|
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 Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||0 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|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|
|Study Start Date :||July 2009|
|Estimated Primary Completion Date :||December 2014|
|Estimated Study Completion Date :||December 2014|
- Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein
- Skeletal radiographs using a qualitative Clinical Global Impression of Change (CGI-C) scoring system [ Time Frame: 6 months ]
- PK using serum peak and trough levels and PD of plasma inorganic pyrophosphate (PPi) and plasma pyridoxal-5' phosphate (PLP) as biomarkers for HPP. [ Time Frame: 6 months ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00894075
|Principal Investigator:||Michael P. Whyte, MD||Shriners Hospital, St. Louis. MO|