Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Immune System Diseases Clinical Trial

Official title:

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT00260299
• Other study ID #: MKD dietary study
• Status: Terminated
• Start date: February 2005
• Est. completion date: January 31, 2016

Study information

• Verified date: May 2019
• Source: Oregon Health and Science University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 1
• Est. completion date: January 31, 2016
• Est. primary completion date: December 31, 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Familial Mediterranean Fever
• Immune System Diseases
• Lipid Metabolism, Inborn Errors
• Metabolism, Inborn Errors
• Mevalonate Kinase Deficiency
• Mevalonic Aciduria
• Periodic Fever Syndromes, Hereditary
• Syndrome

Locations

Country	Name	City	State
United States	Oregon Health & Science University	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Oregon Health and Science University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways	blood levels of cholesterol	December 2011
Secondary	Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.	Gene Mutations - 7-dehydrocholesterol levels	December 2011