Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Sponsor

Oregon Health and Science University (Other)

Overall Status

Terminated

CT.gov ID

NCT00260299

Collaborator

(none)

Enrollment

Location

131.9

Duration (Months)

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Mevalonic Aciduria Mevalonate Kinase Deficiency Immune System Diseases Periodic Fever Syndromes, Hereditary Lipid Metabolism, Inborn Errors

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.

Study Design

Study Type:

Observational

Actual Enrollment :

1 participants

Observational Model:

Case-Only

Time Perspective:

Prospective

Official Title:

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Study Start Date :

Feb 1, 2005

Actual Primary Completion Date :

Dec 31, 2014

Actual Study Completion Date :

Jan 31, 2016

Outcome Measures

Primary Outcome Measures

Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways [December 2011]
blood levels of cholesterol

Secondary Outcome Measures

Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations. [December 2011]
Gene Mutations - 7-dehydrocholesterol levels