Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

NCT ID: NCT00260299

Last Updated: 2019-05-24

Basic Information

• Recruitment Status: TERMINATED
• Total Enrollment: 1 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2005-02-28
• Study Completion Date: 2016-01-31

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.

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.

Conditions

Mevalonic Aciduria; Mevalonate Kinase Deficiency; Immune System Diseases; Periodic Fever Syndromes, Hereditary; Lipid Metabolism, Inborn Errors

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Oregon Health and Science University

OTHER

Sponsor Role: lead

Responsible Party

Jean-Baptiste Roullet

Clinical Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Robert D Steiner, MD

Role: PRINCIPAL_INVESTIGATOR

University of Wisconsin, Madison

Locations

Oregon Health & Science University

Portland, Oregon, United States

Countries

United States

Other Identifiers

MKD dietary study

Identifier Type: -

Identifier Source: org_study_id