Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

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ClinicalTrials.gov Identifier: NCT00260299

Recruitment Status : Unknown

Verified March 2012 by Robert Steiner, Oregon Health and Science University.
Recruitment status was: Recruiting

First Posted : December 1, 2005

Last Update Posted : March 23, 2012

Sponsor:

Information provided by (Responsible Party):

Robert Steiner, Oregon Health and Science University

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
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
Estimated Enrollment :	15 participants
Observational Model:	Case-Only
Time Perspective:	Prospective
Official Title:	Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Study Start Date :	February 2005
Estimated Study Completion Date :	December 2012

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Chanarin-Dorfman syndrome Familial Mediterranean fever Mevalonate kinase deficiency

MedlinePlus related topics: Cholesterol Cholesterol Levels: What You Need to Know

Genetic and Rare Diseases Information Center resources: Familial Mediterranean Fever Mevalonic Aciduria Brucellosis Peroxisomal Biogenesis Disorders

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways [ Time Frame: December 2011 ]

Secondary Outcome Measures :

Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations. [ Time Frame: December 2011 ]

Biospecimen Retention: Samples With DNA

blood samples, cells (fibroblasts) from skin biopsy tissue, DNA, urine and stool

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

children or adults with mevalonic kinase deficiency/mevalonic aciduria/HIDS

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

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00260299

Contacts


Contact: Sharon Butcher, RN	503-494-6524	butcher@ohsu.edu
Contact: Robert D Steiner, MD	503-494-2783	steinerr@ohsu.edu

Locations


United States, Oregon
Oregon Health & Science University	Recruiting
Portland, Oregon, United States, 97239
Contact: Sharon Butcher, RN 503-494-6524 butcher@ohsu.edu
Contact: Sylvia Hathaway 503-494-2783 hathawas@ohsu.edu
Principal Investigator: Robert D Steiner, MD

Sponsors and Collaborators

Oregon Health and Science University

Investigators


Principal Investigator:	Robert D Steiner, MD	Oregon Health and Science University

More Information


Responsible Party:	Robert Steiner, Credit Union for Kids Professor of Pediatric Research & Vice Chair for Research, Oregon Health and Science University
ClinicalTrials.gov Identifier:	NCT00260299 History of Changes
Other Study ID Numbers:	MKD dietary study
First Posted:	December 1, 2005 Key Record Dates
Last Update Posted:	March 23, 2012
Last Verified:	March 2012

Keywords provided by Robert Steiner, Oregon Health and Science University:


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

Additional relevant MeSH terms:


Syndrome Immune System Diseases Metabolism, Inborn Errors Familial Mediterranean Fever Lipid Metabolism, Inborn Errors Mevalonate Kinase Deficiency Disease Pathologic Processes Genetic Diseases, Inborn Metabolic Diseases Hereditary Autoinflammatory Diseases	Lipid Metabolism Disorders Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Hypergammaglobulinemia Blood Protein Disorders Hematologic Diseases Peroxisomal Disorders Immunoproliferative Disorders

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