Mevalonic AciduriaNCT00260299
Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
An observational study of Mevalonic Aciduria and Mevalonate Kinase Deficiency, run by Oregon Health and Science University at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mevalonic Aciduria, Mevalonate Kinase Deficiency, Immune System Diseases
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2005to 31 Jan 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: children or adults with mevalonic kinase deficiency/mevalonic aciduria/HIDS
Who may be able to join
- Must have documented mevalonate kinase deficiency, mevalonic aciduria, or HIDS
- Must be willing to participate in most research procedures
Who cannot join
- Unable or unwilling to participate in most research procedures
Trial locations and contacts
1 site in 1 country.
United States1 site
Oregon Health & Science University
Portland, Oregon, 97239
About this study
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.
Read the 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.
- Conditions
- Mevalonic Aciduria, Mevalonate Kinase Deficiency, Immune System Diseases, Periodic Fever Syndromes, Hereditary, Lipid Metabolism, Inborn Errors
- Keywords
- 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
- Medical subject headings
- Mevalonate Kinase Deficiency, Immune System Diseases, Hereditary Autoinflammatory Diseases, Lipid Metabolism, Inborn Errors, Fever
What is being measured
The primary outcome is the main question the study is designed to answer.
Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways
blood levels of cholesterol
Measured: December 2011
Secondary outcomes (1)
Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.
Gene Mutations - 7-dehydrocholesterol levels
Measured: December 2011
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2005 (estimated)
- Study startFeb 2005
- Primary completion31 Dec 2014
- Study completion31 Jan 2016
Why it stopped: Not enough participants
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mevalonic AciduriaStudies of the same condition, open and under way.
- More trials run by Oregon Health and Science UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Oregon Health and Science University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jean-Baptiste Roullet, Oregon Health and Science University
- Investigators
- Robert D Steiner, MD, Principal investigator, University of Wisconsin, Madison
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00260299
- Sponsor's protocol ID
- MKD dietary study
- Status last verified
- May 2019
- First submitted
- 30 Nov 2005
- Last updated
- 24 May 2019
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 24 May 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
- ClinicalTrials.gov ID
- NCT00260299
- Acronym / sponsor ID
- MKD dietary study
- Conditions
- Mevalonic Aciduria, Mevalonate Kinase Deficiency, Immune System Diseases, Periodic Fever Syndromes, Hereditary, Lipid Metabolism, Inborn Errors
- Keywords
- cholesterol defects, Mevalonic Aciduria, Mevalonate Kinase Deficiency, HIDS, Hyperimmunoglobulinemia with periodic fever syndrome, MKD, Lipid Metabolism, Inborn Errors, Periodic Fever Syndromes, hereditary
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Not enough participants
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Oregon Health and Science UniversityUniversity, hospital or other
- Study start
- Feb 2005
- Primary completion
- 31 Dec 2014 (actual)
- Study completion
- 31 Jan 2016 (actual)
- First posted
- 1 Dec 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- children or adults with mevalonic kinase deficiency/mevalonic aciduria/HIDS
Key inclusion criteria (2 listed)
- Must have documented mevalonate kinase deficiency, mevalonic aciduria, or HIDS
- Must be willing to participate in most research procedures
Key exclusion criteria (1 listed)
- Unable or unwilling to participate in most research procedures
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways
Time frame: December 2011
blood levels of cholesterol
1 secondary outcome
Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.
Time frame: December 2011
Results and safety
The study was stopped early (reason given: Not enough participants). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 May 2019.
Related trials for Mevalonic Aciduria
RecruitingObservational study
Ilaris NIS in Korea
Hereditary Periodic Fever Syndromes, Cryopyrin-associated Periodic Syndromes (CAPS)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Robert D Steiner, MD principal investigator
University of Wisconsin, Madison
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mevalonic Aciduria and Mevalonate Kinase Deficiency, run by Oregon Health and Science University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 24 May 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Not enough participants). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways (time frame: December 2011). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 May 2019.