Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Brief Title

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Official Title

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

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.
    


Study Type

Observational


Primary Outcome

Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways

Secondary Outcome

 Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.

Condition

Mevalonic Aciduria



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

1

Start Date

February 2005

Completion Date

January 31, 2016

Primary Completion Date

December 31, 2014

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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Robert D Steiner, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00260299

Organization ID

MKD dietary study


Responsible Party

Principal Investigator

Study Sponsor

Oregon Health and Science University


Study Sponsor

Robert D Steiner, MD, Principal Investigator, University of Wisconsin, Madison


Verification Date

May 2019