Clinical Trial: Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine

Brief Summary:

Cystathionine beta-synthase deficiency is an inherited disease that results in elevation of a substance called homocysteine (Hcy) in blood and urine. Individuals with this disorder have a very high risk for developing blood clots and are at risk for developing eye and bone abnormalities. Current treatments are generally difficult to follow and can fail. Development of additional therapies has been limited by lack of understanding of how the disease works.

The purpose of this study is to see if oxidative stress and inflammation are involved in the disease process and if short-term supplementation with taurine is an effective treatment.

Funding source: FDA-OOPD


Detailed Summary:

Cystathionine beta-synthase deficient homocystinuria(CBSDH) is an inherited disease that results in elevation of a substance called homocysteine(Hcy)in blood and urine. Individuals with this disorder have a very high risk for developing blood clots that can cause a stroke or other life-threatening problems. In addition, these individuals have bone and joint tissue abnormalities.

Current treatment with an extremely strict diet and medication (betaine) is very difficult to follow, and often fails. Development of additional treatment strategies has been limited by a lack of knowledge and understanding of how this disease works. Hence, there is a need to better understand what causes the blood clots and the bone and joint tissue abnormalities.

New data suggest that oxidative stress and inflammation play a central role in animals with this disease. Limited data on humans with this disease support this as well. Further, data from animals with this disease suggests that taurine, a natural body substance and food product, which is low in these patients, mitigates this effect. This study is designed to follow-up on these data.

The purpose of the study is to increase our understanding of the disease process in this disorder, and to see in a pilot study if short-term supplementation with taurine is an effective intervention. The aims of the study are to:

  1. see if substances (markers) associated with oxidative stress and inflammation are increased in individuals with CBSDH
  2. see if the levels of these markers relate to the levels of homocysteine
  3. see if the levels of these markers decrease with short-term taurine supplementation
  4. Sponsor: University of Colorado, Denver

    Current Primary Outcome:

    • Change in Biomarkers associated with oxidative stress and inflammation;tumor necrosis factor (TNF)-alpha and thiobarbituric acid reactive substances (TBARS) [ Time Frame: 4 1/2 days ]
    • Change in Pharmacokinetics of Taurine [ Time Frame: 4 1/2 days ]
    • Evaluation of Biochemical and Clinical Safety Data [ Time Frame: During study and 2 weeks after completion ]


    Original Primary Outcome: See if biomarkers associated with oxidative stress and inflammation are increased in individuals with Cystathionine beta-synthase deficient homocystinuria (CBSDH)

    Current Secondary Outcome:

    • Evaluation of blood vessels and platelet function [ Time Frame: 4 1/2 days ]
    • Change in Taurine Pharmacokinetics [ Time Frame: 4 1/2 days ]
    • Evaluation of Multiple Biomarkers of Inflammation and Oxidative Stress [ Time Frame: 4 1/2 days ]
    • Relation to Biochemical Parameters of Homocystinuria [ Time Frame: 4 1/2 days ]
    • Change in Bone Mineral Density [ Time Frame: Lifetime ]


    Original Secondary Outcome:

    • see how blood vessels and platelets work in individuals with CHBSDH
    • see if the levels of these biomarkers decrease with short-term taurine supplementation
    • see if alterations of bone strength are related to levels of biomarkers of inflammation [ Time Frame: unknonwn ]
    • see if the levels of these biomarkers relate to the levels of homocysteine


    Information By: University of Colorado, Denver

    Dates:
    Date Received: August 30, 2010
    Date Started: January 2010
    Date Completion: December 2017
    Last Updated: January 10, 2017
    Last Verified: January 2017