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B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency

NCT01568736 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2018-06-18

No results posted yet for this study

Summary

The hyper IgD syndrome (HIDS) is an inflammatory disease caused by mevalonate kinase deficiency. There is no cure, and available treatments of HIDS febrile episodes have shown limited clinical efficacy. The development of effective interventions for HIDS is limited by our poor understanding of the disease. The goal of the study is to better characterize the inflammatory response during HIDS episodes and to determine the relationship between this response and blood and urine markers of mevalonate kinase deficiency. This knowledge will help us learn more about the cause of the disease and should lead to the identification of new disease biomarkers that can be used to evaluate clinical efficacy in future therapeutic trials.

The primary hypothesis is that the costimulatory B7 glycoprotein abnormalities identified in the murine MKD model will be recapitulated in sera obtained from human HIDS patients, either before, during or after febrile episodes. The secondary hypothesis is that B7 glycoprotein molecule levels will correlate with clinical symptomatic severity score, other known biomarkers of HIDS, markers of inflammation and or markers of isoprenoid metabolism.

Conditions

  • Hyper IgD Syndrome
  • Mevalonate Kinase Deficiency

Sponsors & Collaborators

  • Michigan Technological University

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
89 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-03-31
Primary Completion
2016-03-31
Completion
2016-03-31

Countries

  • United States
  • Netherlands

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01568736 on ClinicalTrials.gov