Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

The recruitment status of this study is unknown because the information has not been verified recently.
Verified March 2012 by Oregon Health and Science University.
Recruitment status was  Recruiting
Sponsor:
Information provided by (Responsible Party):
Robert Steiner, Oregon Health and Science University
ClinicalTrials.gov Identifier:
NCT00260299
First received: November 30, 2005
Last updated: March 21, 2012
Last verified: March 2012
  Purpose

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

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Resource links provided by NLM:


Further study details as provided by Oregon Health and Science University:

Primary Outcome Measures:
  • Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways [ Time Frame: December 2011 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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


Estimated Enrollment: 15
Study Start Date: February 2005
Estimated Study Completion Date: December 2012
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

Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

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
Study First Received: November 30, 2005
Last Updated: March 21, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Oregon Health and Science University:
Hyperimmunoglobulinemia with periodic fever syndrome
Periodic Fever Syndromes, hereditary
cholesterol defects
Mevalonic Aciduria
Mevalonate Kinase Deficiency
HIDS
MKD
Lipid Metabolism, Inborn Errors
mevalonic acid
mevalonate kinase
cholesterol, dietary
Hyper IgD
Multiple malformations
Fever

Additional relevant MeSH terms:
Familial Mediterranean Fever
Hereditary Autoinflammatory Diseases
Fever
Amyloidosis
Immune System Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Mevalonate Kinase Deficiency
Body Temperature Changes
Signs and Symptoms
Genetic Diseases, Inborn
Proteostasis Deficiencies
Metabolic Diseases
Lipid Metabolism Disorders
Peroxisomal Disorders
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hypergammaglobulinemia
Blood Protein Disorders
Hematologic Diseases
Immunoproliferative Disorders

ClinicalTrials.gov processed this record on July 29, 2014