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Safety and Efficacy Study of ENB-0040 in Adolescents and Adults With Hypophosphatasia (HPP)

2014-08-27 03:12:11 | BioPortfolio

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 and efficacy of two doses of the study drug called ENB-0040 as compared to a control group to see what effects it has adolescents and adults with HPP.

Description

Hypophosphatasia is 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. 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. Low circulating levels of alkaline phosphatase with elevated serum or urine levels of the TNSALP substrates, inorganic pyrophosphate (PPi), pyroxidal 5'-phosphate (PLP) and phosphoethanolamine (PEA), are the biochemical hallmarks of this inborn error of metabolism.

Disease severity 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 a mortality rate of approximately 50%. Children and adults have less severe disease but can have frequent fractures, bone pain, bowing of the long bones and muscle weakness. Morbidity is generally cumulative; some patients cannot ambulate independently and end up wheelchair-bound.

Study Design

Allocation: Randomized, Control: Dose Comparison, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Treatment

Conditions

Hypophosphatasia

Intervention

ENB-0040, ENB-0040

Location

Duke University Medical Center
Durham
North Carolina
United States
27710

Status

Recruiting

Source

Enobia Pharma

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:12:11-0400

Clinical Trials [13 Associated Clinical Trials listed on BioPortfolio]

Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein (ENB-0040) in Adults With Hypophosphatasia (HPP)

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 ha...

Safety Study of ENB-0040 in Severely Affected Infants With Hypophosphatasia (HPP)

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 h...

16.0040 Ankylosing Spondylitis Study

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Relieving Burden of Hypophosphatasia in Adults With Functional Impairment Due to Chronic Disease

The study will evaluate safety, tolerability, efficacy, pharmacokinetics, and pharmacodynamics of 2 different doses (approved dose and lower dose) of asfotase alfa in adult participants wi...

Evaluation of Bone Architecture and Bone Strength in Adults With Hypophosphatasia (HPP)

The study aims to evaluate the bone architecture and bone strength in adults with Hypophosphatasia (HPP).

PubMed Articles [9 Associated PubMed Articles listed on BioPortfolio]

Molecular and cellular basis of hypophosphatasia.

Hypophosphatasia (HPP) is an inherited disorder characterized by defective mineralization of the bone and teeth that is also associated with a deficiency of serum alkaline phosphatase (ALP). Patients ...

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.

Hypophosphatasia (HPP) is a rare and intractable metabolic bone disease caused by mutations in the ALPL gene. Here, we undertook a nationwide survey of HPP in Japan, specifically regarding the promine...

Letter to the Editor: "Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study".

Integrating transcriptome-wide association study and mRNA expression profiling identified candidate genes and pathways associated with osteomyelitis.

: Osteomyelitis (OM) is an acute or chronic inflammatory process, characterized by severe inflammation and progressive bone destruction. Limited efforts have been made to explore the genetic basis of ...

Age at Exposure to Radiation Determines Severity of Renal and Cardiac Disease in Rats.

Radiotherapy with sparsely ionizing photons is a cornerstone of successful cancer treatment. Age at time of exposure to radiation is known to influence biological outcomes for many end points. The eff...

Medical and Biotech [MESH] Definitions

An inorganic pyrophosphate which affects calcium metabolism in mammals. Abnormalities in its metabolism occur in some human diseases, notably HYPOPHOSPHATASIA and pseudogout (CHONDROCALCINOSIS).

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)

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