Advertisement

Topics

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 [9 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

The purpose of this study was to evaluate extended safety and efficacy of etanercept in adults with Ankylosing Spondylitis.

Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia

Hypophosphatasia is a rare inherited metabolic disorder due to inactivating mutations of the ALPL-Gene. Particularly among adult patients, clinical manifestation exhibits a broad range of ...

Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP)

This clinical trial is being conducted in Hypophosphatasia (HPP), a bone disorder caused by gene mutation(s) resulting in bone defects. These gene mutations cause low levels of an enzyme n...

PubMed Articles [5 Associated PubMed Articles listed on BioPortfolio]

Rare variants in the gene ALPL that cause hypophosphatasia are strongly associated with ovarian and uterine disorders.

Mutations in ALPL, which encodes tissue-nonspecific isozyme alkaline phosphatase (TNSALP), cause hypophosphatasia (HPP). HPP is suspected by a low serum alkaline phosphatase (AlkP). We hypothesized th...

Cover Image, Volume 176A, Number 1, January 2018.

The cover image, by Satoru Ikenoue et al., is based on the Clinical Report Discordant fetal phenotype of hypophosphatasia in two siblings, DOI: 10.1002/ajmg.a.38531.

Dental Manifestations of Pediatric Bone Disorders.

Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental-oral manifestations: fibr...

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkalin...

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Although HP...

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)

More From BioPortfolio on "Safety and Efficacy Study of ENB-0040 in Adolescents and Adults With Hypophosphatasia (HPP)"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Clincial Trials
In a clinical trial or interventional study, participants receive specific interventions according to the research plan or protocol created by the investigators. These interventions may be medical products, such as drugs or devices; procedures; or change...

Osteoporosis
Osteoporosis is a disease in which the bones become extremely porous, are subject to fracture, and heal slowly, occurring especially in women following menopause and often leading to curvature of the spine from vertebral collapse. Follow and track&n...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Trial