Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
| Status: | Completed |
|---|---|
| Conditions: | Other Indications, Infectious Disease, Gastrointestinal, Hematology |
| Therapuetic Areas: | Gastroenterology, Hematology, Immunology / Infectious Diseases, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | February 2005 |
| End Date: | December 2012 |
| Contact: | Sharon Butcher, RN |
| Email: | butcher@ohsu.edu |
| Phone: | 503-494-6524 |
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.
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.
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.
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.
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
We found this trial at
1
site
3181 Southwest Sam Jackson Park Road
Portland, Oregon 97239
Portland, Oregon 97239
503 494-8311
Oregon Health and Science University In 1887, the inaugural class of the University of Oregon...
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