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| Sponsored by: |
Oregon Health and Science University |
|---|---|
| Information provided by: | Oregon Health and Science University |
| ClinicalTrials.gov Identifier: | NCT00260299 |
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: | Case-Only, Prospective |
| Official Title: | Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency |
| Estimated Enrollment: | 15 |
| Study Start Date: | February 2005 |
| Estimated Study Completion Date: | December 2011 |
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 |
children or adults with mevalonic kinase deficiency/mevalonic aciduria/HIDS
Inclusion Criteria:
Exclusion Criteria:
Contacts and Locations| Contact: Jennifer Penfield, MS, PA-C | 503-494-7944 | penfield@ohsu.edu |
| Contact: Robert D Steiner, MD | 503-494-2783 | steinerr@ohsu.edu |
| United States, Oregon | |
| Oregon Health & Science University | Recruiting |
| Portland, Oregon, United States, 97239 | |
| Contact: Jennifer Penfield, MS, PA-C 503-494-7944 penfield@ohsu.edu | |
| Contact: Sylvia Hathaway 503-494-2783 hathawas@ohsu.edu | |
| Principal Investigator: Robert D Steiner, MD | |
| Principal Investigator: | Robert D Steiner, MD | Oregon Health and Science University |
More Information
| Responsible Party: | Oregon Health & Science University ( Robert D. Steiner, MD ) |
| Study ID Numbers: | MKD dietary study |
| Study First Received: | November 30, 2005 |
| Last Updated: | February 10, 2009 |
| ClinicalTrials.gov Identifier: | NCT00260299 History of Changes |
| Health Authority: | United States: Institutional Review Board |
|
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 |
|
Lipid Metabolism, Inborn Errors Immunoproliferative Disorders Autoimmune Diseases Metabolic Diseases Mevalonate Kinase Deficiency Hematologic Diseases Blood Protein Disorders Central Nervous System Diseases Brain Diseases Fever Metabolism, Inborn Errors |
Genetic Diseases, Inborn Peroxisomal Disorders Hyperkinesis Brain Diseases, Metabolic, Inborn Familial Mediterranean Fever Congenital Abnormalities Brucellosis Metabolic Disorder Mevalonic Aciduria Brain Diseases, Metabolic Lipid Metabolism Disorders |
|
Lipid Metabolism, Inborn Errors Immunoproliferative Disorders Autoimmune Diseases Metabolic Diseases Disease Immune System Diseases Mevalonate Kinase Deficiency Hematologic Diseases Blood Protein Disorders Nervous System Diseases Central Nervous System Diseases |
Hypergammaglobulinemia Brain Diseases Metabolism, Inborn Errors Pathologic Processes Genetic Diseases, Inborn Peroxisomal Disorders Syndrome Brain Diseases, Metabolic, Inborn Familial Mediterranean Fever Brain Diseases, Metabolic Lipid Metabolism Disorders |
