An observational study in Hyper IgD Syndrome and Mevalonate Kinase Deficiency, sponsored by Michigan Technological University. Withdrawn at 4 sites in 2 countries. Open to participants aged 18 Years to 89 Years. Per ClinicalTrials.gov, last updated 2018-06-18.
Sponsored by Michigan Technological University · Observational
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.
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Subjects with Hyper IgD Syndrome (HIDS)
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This study is withdrawn, as verified in Mar 2012. You cannot join it, but the record below documents what was studied.
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Mevalonate Kinase Deficiency
Michigan Technological University