Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Overview

Participants wanted for study of mevalonate kinase deficiency (MKD), mevalonic aciduria, or hyperimmunoglobulinemia with periodic fever syndrome (HIDS). Patients with MKD (mevalonic aciduria or hyperimmunoglobulinemia with periodic fever syndrome (HIDS)) may be eligible for a research study conducted at Oregon Health & Science University (OHSU) in Portland, Oregon USA. The purpose of the study is to find out more about how these diseases affect body chemistry and health. The researchers also want to find out how cholesterol in the diet affect blood cholesterol and how the body handles cholesterol. This is a short-term and long-term dietary study. The long-term goal of this research is to see if controlling dietary cholesterol can decrease any of the symptoms of the diseases. The study could involve up to 12 one-week admissions to OHSU over the course of 5 years.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 31, 2014

Detailed Description

Participants are admitted to the clinical research center for up to a week per visit. Additional visits at least yearly encouraged. During the week we measure such things as cholesterol absorption, sterol and bile acid synthesis, mevalonate and mevalonate shunt products, isoprenoids, fatty acids, leukotrienes, plasma cholesterol and other sterol levels. Also, the effects of altering dietary cholesterol on plasma 24-S OH-cholesterol, a measure of brain cholesterol turnover, will be evaluated. Studies of body composition/ metabolism/ growth, development, behavior, sleep, feeding, hearing and vision will be carried out to document the phenotype and determine if dietary intervention may be helpful. The objective of the study is to characterize the metabolic and phenotypic consequences of MKD and study the effects of altering dietary cholesterol in MKD. We hypothesize that some of the phenotypic effects of MKD are due to altered cholesterol metabolism, but that the phenotype is predominantly due to derangements in isoprenoid metabolism.

Clinical Trial Outcome Measures

Primary Measures

  • Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways
    • Time Frame: December 2011
    • blood levels of cholesterol

Secondary Measures

  • Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.
    • Time Frame: December 2011
    • Gene Mutations – 7-dehydrocholesterol levels

Participating in This Clinical Trial

Inclusion Criteria

  • Must have documented mevalonate kinase deficiency, mevalonic aciduria, or HIDS – Must be willing to participate in most research procedures Exclusion Criteria:

  • Unable or unwilling to participate in most research procedures

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Oregon Health and Science University
  • Provider of Information About this Clinical Study
    • Principal Investigator: Jean-Baptiste Roullet, Clinical Professor – Oregon Health and Science University
  • Overall Official(s)
    • Robert D Steiner, MD, Principal Investigator, University of Wisconsin, Madison

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At TrialBulletin.com, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.