NCT00260299

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.

Trial Health

57
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Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Feb 2005

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2005

Completed
10 months until next milestone

First Submitted

Initial submission to the registry

November 30, 2005

Completed
1 day until next milestone

First Posted

Study publicly available on registry

December 1, 2005

Completed
9.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2014

Completed
1.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

January 31, 2016

Completed
Last Updated

May 24, 2019

Status Verified

May 1, 2019

Enrollment Period

9.9 years

First QC Date

November 30, 2005

Last Update Submit

May 22, 2019

Conditions

Mevalonic AciduriaMevalonate Kinase DeficiencyImmune System DiseasesPeriodic Fever Syndromes, HereditaryLipid Metabolism, Inborn Errors

Keywords

cholesterol defectsMevalonic AciduriaMevalonate Kinase DeficiencyHIDSHyperimmunoglobulinemia with periodic fever syndromeMKDLipid Metabolism, Inborn ErrorsPeriodic Fever Syndromes, hereditarymevalonic acidmevalonate kinasecholesterol, dietaryHyper IgDMultiple malformationsFever

Outcome Measures

Primary Outcomes (1)

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

    blood levels of cholesterol

    December 2011

Secondary Outcomes (1)

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

    December 2011

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

children or adults with mevalonic kinase deficiency/mevalonic aciduria/HIDS

You may qualify if:

  • Must have documented mevalonate kinase deficiency, mevalonic aciduria, or HIDS
  • Must be willing to participate in most research procedures

You may not qualify if:

  • Unable or unwilling to participate in most research procedures

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood samples, cells (fibroblasts) from skin biopsy tissue, DNA, urine and stool

MeSH Terms

Conditions

Mevalonate Kinase DeficiencyImmune System DiseasesHereditary Autoinflammatory DiseasesLipid Metabolism, Inborn ErrorsFever

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesHypergammaglobulinemiaBlood Protein DisordersHematologic DiseasesHemic and Lymphatic DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsPeroxisomal DisordersMetabolic DiseasesNutritional and Metabolic DiseasesImmunoproliferative DisordersSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue DiseasesLipid Metabolism DisordersBody Temperature ChangesSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Officials

  • Robert D Steiner, MD

    University of Wisconsin, Madison

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Clinical Professor

Study Record Dates

First Submitted

November 30, 2005

First Posted

December 1, 2005

Study Start

February 1, 2005

Primary Completion

December 31, 2014

Study Completion

January 31, 2016

Last Updated

May 24, 2019

Record last verified: 2019-05

Locations

US(1)