Clinical trial NCT00260299: Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Official title: Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Mevalonic Aciduria
Mevalonate Kinase Deficiency
Immune System Diseases
Periodic Fever Syndromes, Hereditary
Lipid Metabolism, Inborn Errors
Keywords: cholesterol defects
Mevalonic Aciduria
Mevalonate Kinase Deficiency
HIDS
Hyperimmunoglobulinemia with periodic fever syndrome
MKD
Lipid Metabolism, Inborn Errors
Periodic Fever Syndromes, hereditary
mevalonic acid
mevalonate kinase
cholesterol, dietary
Hyper IgD
Multiple malformations
Fever
Lead sponsor: Oregon Health and Science University
Sponsor class: OTHER
First posted: 2005-12-01
Enrollment: 1
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: children or adults with mevalonic kinase deficiency/mevalonic aciduria/HIDS

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.

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

Primary outcomes:
measure: Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways
timeFrame: December 2011
Secondary outcomes:
measure: Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.
timeFrame: December 2011
Other outcomes:
Locations:
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
Study officials:
affiliation: University of Wisconsin, Madison
name: Robert D Steiner, MD
role: PRINCIPAL_INVESTIGATOR
References: