Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
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.
Mevalonate Kinase Deficiency
Immune System Diseases
Periodic Fever Syndromes, Hereditary
Lipid Metabolism, Inborn Errors
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency|
- Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways [ Time Frame: December 2011 ] [ Designated as safety issue: No ]
- Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations. [ Time Frame: December 2011 ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
blood samples, cells (fibroblasts) from skin biopsy tissue, DNA, urine and stool
|Study Start Date:||February 2005|
|Estimated Study Completion Date:||December 2012|
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.
|Contact: Sharon Butcher, RNfirstname.lastname@example.org|
|Contact: Robert D Steiner, MDemail@example.com|
|United States, Oregon|
|Oregon Health & Science University||Recruiting|
|Portland, Oregon, United States, 97239|
|Contact: Sharon Butcher, RN 503-494-6524 firstname.lastname@example.org|
|Contact: Sylvia Hathaway 503-494-2783 email@example.com|
|Principal Investigator: Robert D Steiner, MD|
|Principal Investigator:||Robert D Steiner, MD||Oregon Health and Science University|